SNP Links for Gene (Select 28968) - SNP

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Select item 14914813131.

rs1491481313 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:49319501 (GRCh38)
19:49822758 (GRCh37)
Canonical SPDI:: NC_000019.10:49319496:ATATAT:ATAT
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000084/1 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.49319497AT[2], NC_000019.9:g.49822754AT[2]

Select item 14914671562.

rs1491467156 has merged into rs59789660 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAAA [Show Flanks]
Chromosome:: 19:49314107 (GRCh38)
19:49817364 (GRCh37)
Canonical SPDI:: NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: SLC6A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.00048/5 (ALFA)
-=0.016667/10 (NorthernSweden)
-=0.019785/5237 (TOPMED)
-=0.381989/1913 (1000Genomes)
HGVS:: NC_000019.10:g.49314107_49314108del, NC_000019.10:g.49314108del, NC_000019.10:g.49314108dup, NC_000019.10:g.49314104_49314108dup, NC_000019.9:g.49817364_49817365del, NC_000019.9:g.49817365del, NC_000019.9:g.49817365dup, NC_000019.9:g.49817361_49817365dup

Select item 14913652133.

rs1491365213 has merged into rs55808015 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 19:49321330 (GRCh38)
19:49824587 (GRCh37)
Canonical SPDI:: NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:49321319:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SLC6A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.49321330_49321336del, NC_000019.10:g.49321332_49321336del, NC_000019.10:g.49321333_49321336del, NC_000019.10:g.49321334_49321336del, NC_000019.10:g.49321335_49321336del, NC_000019.10:g.49321336del, NC_000019.10:g.49321336dup, NC_000019.10:g.49321335_49321336dup, NC_000019.10:g.49321334_49321336dup, NC_000019.9:g.49824587_49824593del, NC_000019.9:g.49824589_49824593del, NC_000019.9:g.49824590_49824593del, NC_000019.9:g.49824591_49824593del, NC_000019.9:g.49824592_49824593del, NC_000019.9:g.49824593del, NC_000019.9:g.49824593dup, NC_000019.9:g.49824592_49824593dup, NC_000019.9:g.49824591_49824593dup

Select item 14911348144.

rs1491134814 has merged into rs1433570521 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATATGT>-,GTATATGTGTATATGT [Show Flanks]
Chromosome:: 19:49319513 (GRCh38)
19:49822770 (GRCh37)
Canonical SPDI:: NC_000019.10:49319497:TATATGTGTATATGTGTATATGT:TATATGTGTATATGT,NC_000019.10:49319497:TATATGTGTATATGTGTATATGT:TATATGTGTATATGTGTATATGTGTATATGT
Gene:: SLC6A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTGTATATGT=0.000061/1 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000351/93 (TOPMED)
-=0.000468/3 (1000Genomes)
-=0.000691/96 (GnomAD)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000019.10:g.49319505GTATATGT[1], NC_000019.10:g.49319505GTATATGT[3], NC_000019.9:g.49822762GTATATGT[1], NC_000019.9:g.49822762GTATATGT[3]

Select item 14910669205.

rs1491066920 has merged into rs59789660 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAAA [Show Flanks]
Chromosome:: 19:49314107 (GRCh38)
19:49817364 (GRCh37)
Canonical SPDI:: NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:49314095:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: SLC6A16 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.00048/5 (ALFA)
-=0.016667/10 (NorthernSweden)
-=0.019785/5237 (TOPMED)
-=0.381989/1913 (1000Genomes)
HGVS:: NC_000019.10:g.49314107_49314108del, NC_000019.10:g.49314108del, NC_000019.10:g.49314108dup, NC_000019.10:g.49314104_49314108dup, NC_000019.9:g.49817364_49817365del, NC_000019.9:g.49817365del, NC_000019.9:g.49817365dup, NC_000019.9:g.49817361_49817365dup

Select item 14910017786.

rs1491001778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49290445 (GRCh38)
19:49793702 (GRCh37)
Canonical SPDI:: NC_000019.10:49290444:G:A
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49290445G>A, NC_000019.9:g.49793702G>A

Select item 14908356147.

rs1490835614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49313909 (GRCh38)
19:49817166 (GRCh37)
Canonical SPDI:: NC_000019.10:49313908:A:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49313909A>G, NC_000019.9:g.49817166A>G

Select item 14906903658.

rs1490690365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49330195 (GRCh38)
19:49833452 (GRCh37)
Canonical SPDI:: NC_000019.10:49330194:A:C
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49330195A>C, NC_000019.9:g.49833452A>C

Select item 14905936759.

rs1490593675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49327283 (GRCh38)
19:49830540 (GRCh37)
Canonical SPDI:: NC_000019.10:49327282:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49327283C>T, NC_000019.9:g.49830540C>T

Select item 149055669210.

rs1490556692 has merged into rs1197711801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:49307062 (GRCh38)
19:49810319 (GRCh37)
Canonical SPDI:: NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:49307051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.49307062_49307066del, NC_000019.10:g.49307063_49307066del, NC_000019.10:g.49307064_49307066del, NC_000019.10:g.49307065_49307066del, NC_000019.10:g.49307066del, NC_000019.10:g.49307066dup, NC_000019.10:g.49307065_49307066dup, NC_000019.10:g.49307064_49307066dup, NC_000019.10:g.49307063_49307066dup, NC_000019.10:g.49307062_49307066dup, NC_000019.10:g.49307061_49307066dup, NC_000019.10:g.49307060_49307066dup, NC_000019.10:g.49307059_49307066dup, NC_000019.10:g.49307058_49307066dup, NC_000019.10:g.49307057_49307066dup, NC_000019.10:g.49307056_49307066dup, NC_000019.10:g.49307055_49307066dup, NC_000019.10:g.49307054_49307066dup, NC_000019.10:g.49307053_49307066dup, NC_000019.10:g.49307052_49307066dup, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.49307066_49307067insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810319_49810323del, NC_000019.9:g.49810320_49810323del, NC_000019.9:g.49810321_49810323del, NC_000019.9:g.49810322_49810323del, NC_000019.9:g.49810323del, NC_000019.9:g.49810323dup, NC_000019.9:g.49810322_49810323dup, NC_000019.9:g.49810321_49810323dup, NC_000019.9:g.49810320_49810323dup, NC_000019.9:g.49810319_49810323dup, NC_000019.9:g.49810318_49810323dup, NC_000019.9:g.49810317_49810323dup, NC_000019.9:g.49810316_49810323dup, NC_000019.9:g.49810315_49810323dup, NC_000019.9:g.49810314_49810323dup, NC_000019.9:g.49810313_49810323dup, NC_000019.9:g.49810312_49810323dup, NC_000019.9:g.49810311_49810323dup, NC_000019.9:g.49810310_49810323dup, NC_000019.9:g.49810309_49810323dup, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49810323_49810324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149053804511.

rs1490538045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49329926 (GRCh38)
19:49833183 (GRCh37)
Canonical SPDI:: NC_000019.10:49329925:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49329926C>T, NC_000019.9:g.49833183C>T

Select item 149050336612.

rs1490503366 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149034197513.

rs1490341975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49334287 (GRCh38)
19:49837544 (GRCh37)
Canonical SPDI:: NC_000019.10:49334286:C:T
Gene:: CD37 (Varview), SLC6A16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49334287C>T, NC_000019.9:g.49837544C>T, NG_033941.1:g.3868C>T

Select item 149022049214.

rs1490220492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49305569 (GRCh38)
19:49808826 (GRCh37)
Canonical SPDI:: NC_000019.10:49305568:G:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49305569G>T, NC_000019.9:g.49808826G>T

Select item 149012587515.

rs1490125875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49321372 (GRCh38)
19:49824629 (GRCh37)
Canonical SPDI:: NC_000019.10:49321371:G:A
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49321372G>A, NC_000019.9:g.49824629G>A

Select item 149011120216.

rs1490111202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49316953 (GRCh38)
19:49820210 (GRCh37)
Canonical SPDI:: NC_000019.10:49316952:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49316953C>T, NC_000019.9:g.49820210C>T

Select item 149001216017.

rs1490012160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49313022 (GRCh38)
19:49816279 (GRCh37)
Canonical SPDI:: NC_000019.10:49313021:G:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000023/3 (GnomAD)
HGVS:: NC_000019.10:g.49313022G>T, NC_000019.9:g.49816279G>T

Select item 148998846918.

rs1489988469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49328712 (GRCh38)
19:49831969 (GRCh37)
Canonical SPDI:: NC_000019.10:49328711:C:T
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49328712C>T, NC_000019.9:g.49831969C>T

Select item 148997134619.

rs1489971346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49297212 (GRCh38)
19:49800469 (GRCh37)
Canonical SPDI:: NC_000019.10:49297211:A:G
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49297212A>G, NC_000019.9:g.49800469A>G

Select item 148994580220.

rs1489945802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49315392 (GRCh38)
19:49818649 (GRCh37)
Canonical SPDI:: NC_000019.10:49315391:G:A
Gene:: SLC6A16 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.49315392G>A, NC_000019.9:g.49818649G>A

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