SNP Links for Gene (Select 6324) - SNP

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Select item 14909205291.

rs1490920529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35035892 (GRCh38)
19:35526796 (GRCh37)
Canonical SPDI:: NC_000019.10:35035891:C:T
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.35035892C>T, NC_000019.9:g.35526796C>T, NG_013359.1:g.10205C>T, NM_199037.5:c.*1794C>T, NM_199037.4:c.*1794C>T

Select item 14908243872.

rs1490824387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35029115 (GRCh38)
19:35520019 (GRCh37)
Canonical SPDI:: NC_000019.10:35029114:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35029115G>A, NC_000019.9:g.35520019G>A, NG_013359.1:g.3428G>A

Select item 14905540133.

rs1490554013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:35028846 (GRCh38)
19:35519750 (GRCh37)
Canonical SPDI:: NC_000019.10:35028845:C:A
Gene:: SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.35028846C>A, NC_000019.9:g.35519750C>A, NG_013359.1:g.3159C>A

Select item 14903992694.

rs1490399269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35039249 (GRCh38)
19:35530153 (GRCh37)
Canonical SPDI:: NC_000019.10:35039248:A:G
Gene:: HPN (Varview), SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35039249A>G, NC_000019.9:g.35530153A>G, NG_013359.1:g.13562A>G, NM_001037.5:c.581A>G, NM_001037.4:c.581A>G, NM_001321605.2:c.482A>G, NM_001321605.1:c.482A>G, NP_001028.1:p.Gln194Arg, NP_001308534.1:p.Gln161Arg

Select item 14901137965.

rs1490113796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35035705 (GRCh38)
19:35526609 (GRCh37)
Canonical SPDI:: NC_000019.10:35035704:T:C
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.35035705T>C, NC_000019.9:g.35526609T>C, NG_013359.1:g.10018T>C, NM_199037.5:c.*1607T>C, NM_199037.4:c.*1607T>C

Select item 14890946116.

rs1489094611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35037240 (GRCh38)
19:35528144 (GRCh37)
Canonical SPDI:: NC_000019.10:35037239:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.35037240G>A, NC_000019.9:g.35528144G>A, NG_013359.1:g.11553G>A, NM_199037.5:c.*3142G>A, NM_199037.4:c.*3142G>A

Select item 14890877627.

rs1489087762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:35037118 (GRCh38)
19:35528022 (GRCh37)
Canonical SPDI:: NC_000019.10:35037117:C:A
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.35037118C>A, NC_000019.9:g.35528022C>A, NG_013359.1:g.11431C>A, NM_199037.5:c.*3020C>A, NM_199037.4:c.*3020C>A

Select item 14889541798.

rs1488954179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35029760 (GRCh38)
19:35520664 (GRCh37)
Canonical SPDI:: NC_000019.10:35029759:A:G
Gene:: SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35029760A>G, NC_000019.9:g.35520664A>G, NG_013359.1:g.4073A>G

Select item 14887113719.

rs1488711371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35032682 (GRCh38)
19:35523586 (GRCh37)
Canonical SPDI:: NC_000019.10:35032681:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35032682G>A, NC_000019.9:g.35523586G>A, NG_013359.1:g.6995G>A, NM_199037.5:c.195G>A, NM_199037.4:c.195G>A, NM_199037.3:c.195G>A, NM_001037.5:c.195G>A, NM_001037.4:c.195G>A, NM_001321605.2:c.96G>A, NM_001321605.1:c.96G>A

Select item 148869974910.

rs1488699749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:35033688 (GRCh38)
19:35524592 (GRCh37)
Canonical SPDI:: NC_000019.10:35033687:G:A,NC_000019.10:35033687:G:T
Gene:: SCN1B (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.35033688G>A, NC_000019.10:g.35033688G>T, NC_000019.9:g.35524592G>A, NC_000019.9:g.35524592G>T, NG_013359.1:g.8001G>A, NG_013359.1:g.8001G>T, NM_199037.5:c.397G>A, NM_199037.5:c.397G>T, NM_199037.4:c.397G>A, NM_199037.4:c.397G>T, NM_199037.3:c.397G>A, NM_199037.3:c.397G>T, NM_001037.5:c.397G>A, NM_001037.5:c.397G>T, NM_001037.4:c.397G>A, NM_001037.4:c.397G>T, NM_001321605.2:c.298G>A, NM_001321605.2:c.298G>T, NM_001321605.1:c.298G>A, NM_001321605.1:c.298G>T, NP_950238.1:p.Glu133Lys, NP_950238.1:p.Glu133Ter, NP_001028.1:p.Glu133Lys, NP_001028.1:p.Glu133Ter, NP_001308534.1:p.Glu100Lys, NP_001308534.1:p.Glu100Ter

Select item 148867871211.

rs1488678712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATGTGCCCGGCTGCGCGCGCCAGCG [Show Flanks]
Chromosome:: 19:35030538 (GRCh38)
19:35521443 (GRCh37)
Canonical SPDI:: NC_000019.10:35030538:AGCGGATGTGCCCGGCTGCGCGCGCCAGCG:AGCGGATGTGCCCGGCTGCGCGCGCCAGCGGATGTGCCCGGCTGCGCGCGCCAGCG
Gene:: SCN1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCGGATGTGCCCGGCTGCGCGCGCCAGCGGATGTGCCCGGCTGCGCGCGCCAGCG=0./0 (ALFA)
AGCGGATGTGCCCGGCTGCGCGCGCC=0.000015/2 (GnomAD)
AGCGGATGTGCCCGGCTGCGCGCGCC=0.001667/1 (NorthernSweden)
HGVS:: NC_000019.10:g.35030543_35030568dup, NC_000019.9:g.35521447_35521472dup, NG_013359.1:g.4856_4881dup, NM_199037.5:c.-278_-253dup, NM_001037.5:c.-278_-253dup

Select item 148862081612.

rs1488620816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35037572 (GRCh38)
19:35528476 (GRCh37)
Canonical SPDI:: NC_000019.10:35037571:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35037572G>A, NC_000019.9:g.35528476G>A, NG_013359.1:g.11885G>A, NM_199037.5:c.*3474G>A, NM_199037.4:c.*3474G>A

Select item 148858144913.

rs1488581449 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:35029739 (GRCh38)
19:35520643 (GRCh37)
Canonical SPDI:: NC_000019.10:35029738:A:
Gene:: SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000036/1 (TOMMO)
HGVS:: NC_000019.10:g.35029739del, NC_000019.9:g.35520643del, NG_013359.1:g.4052del

Select item 148848509714.

rs1488485097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:35034062 (GRCh38)
19:35524966 (GRCh37)
Canonical SPDI:: NC_000019.10:35034061:G:C
Gene:: SCN1B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35034062G>C, NC_000019.9:g.35524966G>C, NG_013359.1:g.8375G>C, NM_199037.5:c.771G>C, NM_199037.4:c.771G>C, NM_199037.3:c.771G>C

Select item 148811704915.

rs1488117049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35037561 (GRCh38)
19:35528465 (GRCh37)
Canonical SPDI:: NC_000019.10:35037560:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35037561G>A, NC_000019.9:g.35528465G>A, NG_013359.1:g.11874G>A, NM_199037.5:c.*3463G>A, NM_199037.4:c.*3463G>A

Select item 148804397916.

rs1488043979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35034606 (GRCh38)
19:35525510 (GRCh37)
Canonical SPDI:: NC_000019.10:35034605:G:A
Gene:: SCN1B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.35034606G>A, NC_000019.9:g.35525510G>A, NG_013359.1:g.8919G>A, NM_199037.5:c.*508G>A, NM_199037.4:c.*508G>A

Select item 148797146617.

rs1487971466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:35030607 (GRCh38)
19:35521511 (GRCh37)
Canonical SPDI:: NC_000019.10:35030606:A:C,NC_000019.10:35030606:A:G
Gene:: SCN1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
G=0.001279/36 (TOMMO)
HGVS:: NC_000019.10:g.35030607A>C, NC_000019.10:g.35030607A>G, NC_000019.9:g.35521511A>C, NC_000019.9:g.35521511A>G, NG_013359.1:g.4920A>C, NG_013359.1:g.4920A>G, NM_199037.5:c.-214A>C, NM_199037.5:c.-214A>G, NM_001037.5:c.-214A>C, NM_001037.5:c.-214A>G

Select item 148792409818.

rs1487924098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:35030426 (GRCh38)
19:35521330 (GRCh37)
Canonical SPDI:: NC_000019.10:35030425:G:A,NC_000019.10:35030425:G:C
Gene:: SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.35030426G>A, NC_000019.10:g.35030426G>C, NC_000019.9:g.35521330G>A, NC_000019.9:g.35521330G>C, NG_013359.1:g.4739G>A, NG_013359.1:g.4739G>C

Select item 148788367219.

rs1487883672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35039174 (GRCh38)
19:35530078 (GRCh37)
Canonical SPDI:: NC_000019.10:35039173:T:C
Gene:: HPN (Varview), SCN1B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.35039174T>C, NC_000019.9:g.35530078T>C, NG_013359.1:g.13487T>C, NM_001037.5:c.506T>C, NM_001037.4:c.506T>C, NM_001321605.2:c.407T>C, NM_001321605.1:c.407T>C, NP_001028.1:p.Val169Ala, NP_001308534.1:p.Val136Ala

Select item 148698289320.

rs1486982893 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>-
Chromosome:: no mapping
Canonical SPDI:

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