Version: 8.0.0
Date: Tue Jan 28 2025
769 results
Allele/Variant Genes: NEFH (Hsa)

(GRCh38)22:29480520C>G

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480520C>G
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480520C>G

(GRCh38)22:29480551G>C

(Homo sapiens)
Allele/Variant
Source: rs992666406
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480551G>C

(GRCh38)22:29480678G>C

(Homo sapiens)
Allele/Variant
Source: rs1187998283
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480678G>C

(GRCh38)22:29480738G>A

(Homo sapiens)
Allele/Variant
Source: rs1413882817
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480738G>A

(GRCh38)22:29480848G>C

(Homo sapiens)
Allele/Variant
Source: rs2146391481
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480848G>C

(GRCh38)22:29480850G>C

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480850G>C
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480850G>C

(GRCh38)22:29480979C>T

(Homo sapiens)
Allele/Variant
Source: rs889352959
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480979C>T

(GRCh38)22:29481024G>C

(Homo sapiens)
Allele/Variant
Source: rs780230539
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29481024G>C

(GRCh38)22:29481138G>A

(Homo sapiens)
Allele/Variant
Source: rs1296342371
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_gained
Diseases: Not Available
Variant Name: (GRCh38)22:29481138G>A

(GRCh38)22:29481164G>C

(Homo sapiens)
Allele/Variant
Source: rs1051748509
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29481164G>C

(GRCh38)22:29480298C>A

(Homo sapiens)
Allele/Variant
Source: rs768969651
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480298C>A

(GRCh38)22:29480300C>T

(Homo sapiens)
Allele/Variant
Source: rs748355993
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480300C>T

(GRCh38)22:29480356G>C

(Homo sapiens)
Allele/Variant
Source: rs758066792
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480356G>C

(GRCh38)22:29480423C>T

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480423C>T
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480423C>T

(GRCh38)22:29480737C>T

(Homo sapiens)
Allele/Variant
Source: rs1447365471
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480737C>T

(GRCh38)22:29480767C>T

(Homo sapiens)
Allele/Variant
Source: rs1277092292
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480767C>T

(GRCh38)22:29480860C>A

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480860C>A
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480860C>A

(GRCh38)22:29480927C>A

(Homo sapiens)
Allele/Variant
Source: rs1048827690
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480927C>A

(GRCh38)22:29481081G>C

(Homo sapiens)
Allele/Variant
Source: rs917756240
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29481081G>C

(GRCh38)22:29483556C>T

(Homo sapiens)
Allele/Variant
Source: rs144040465
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29483556C>T

(GRCh38)22:29480289G>A

(Homo sapiens)
Allele/Variant
Source: rs745632920
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480289G>A

(GRCh38)22:29480304G>A

(Homo sapiens)
Allele/Variant
Source: rs772156483
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480304G>A

(GRCh38)22:29480309C>A

(Homo sapiens)
Allele/Variant
Source: rs1468605569
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480309C>A

(GRCh38)22:29480332C>T

(Homo sapiens)
Allele/Variant
Source: rs2146390505
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480332C>T

(GRCh38)22:29480347G>T

(Homo sapiens)
Allele/Variant
Source: rs752311867
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480347G>T

(GRCh38)22:29480264T>C

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480264T>C
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: start_lost
Diseases: Not Available
Variant Name: (GRCh38)22:29480264T>C

(GRCh38)22:29480473G>A

(Homo sapiens)
Allele/Variant
Source: rs1377765655
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480473G>A

(GRCh38)22:29480509G>C

(Homo sapiens)
Allele/Variant
Source: rs971825469
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480509G>C

(GRCh38)22:29480554A>G

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480554A>G
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480554A>G

(GRCh38)22:29480367C>G

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480367C>G
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480367C>G

(GRCh38)22:29480587G>A

(Homo sapiens)
Allele/Variant
Source: rs749069887
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480587G>A

(GRCh38)22:29480596A>C

(Homo sapiens)
Allele/Variant
Source: rs1374103304
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480596A>C

(GRCh38)22:29480640G>C

(Homo sapiens)
Allele/Variant
Source: rs774176192
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480640G>C

(GRCh38)22:29480778G>A

(Homo sapiens)
Allele/Variant
Source: rs1237257655
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480778G>A

(GRCh38)22:29480796C>G

(Homo sapiens)
Allele/Variant
Source: rs1428597117
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480796C>G

(GRCh38)22:29480817A>C

(Homo sapiens)
Allele/Variant
Source: rs7289196
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480817A>C

(GRCh38)22:29480869G>A

(Homo sapiens)
Allele/Variant
Source: rs912081556
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480869G>A

(GRCh38)22:29485838C>T

(Homo sapiens)
Allele/Variant
Source: rs757021413
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29485838C>T

(GRCh38)22:29488934G>C

(Homo sapiens)
Allele/Variant
Source: rs777777329
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29488934G>C

(GRCh38)22:29488987G>C

(Homo sapiens)
Allele/Variant
Source: rs199932977
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29488987G>C

(GRCh38)22:29483415A>G

(Homo sapiens)
Allele/Variant
Source: rs1277199681
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29483415A>G

(GRCh38)22:29483419G>A

(Homo sapiens)
Allele/Variant
Source: rs549970192
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29483419G>A

(GRCh38)22:29480379C>T

(Homo sapiens)
Allele/Variant
Source: NC_000022.11:g.29480379C>T
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480379C>T

(GRCh38)22:29480598C>A

(Homo sapiens)
Allele/Variant
Source: rs777942766
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480598C>A

(GRCh38)22:29481034G>T

(Homo sapiens)
Allele/Variant
Source: rs1019039034
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_gained
Diseases: Not Available
Variant Name: (GRCh38)22:29481034G>T

(GRCh38)22:29480340C>T

(Homo sapiens)
Allele/Variant
Source: rs1324125447
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480340C>T

(GRCh38)22:29480283G>A

(Homo sapiens)
Allele/Variant
Source: rs192350983
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480283G>A

(GRCh38)22:29480679C>G

(Homo sapiens)
Allele/Variant
Source: rs912176188
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480679C>G

(GRCh38)22:29480710G>A

(Homo sapiens)
Allele/Variant
Source: rs769162779
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480710G>A

(GRCh38)22:29480751G>C

(Homo sapiens)
Allele/Variant
Source: rs1485376145
Genes: NEFH (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:29480751G>C