SNP Links for Gene (Select 154761) - SNP

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Select item 14908071751.

rs1490807175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:143817269 (GRCh38)
7:143514362 (GRCh37)
Canonical SPDI:: NC_000007.14:143817268:G:A,NC_000007.14:143817268:G:T
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/1 (GnomAD)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000007.14:g.143817269G>A, NC_000007.14:g.143817269G>T, NC_000007.13:g.143514362G>A, NC_000007.13:g.143514362G>T, NW_018654714.1:g.361571G>A, NW_018654714.1:g.361571G>T

Select item 14907913082.

rs1490791308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143819306 (GRCh38)
7:143516399 (GRCh37)
Canonical SPDI:: NC_000007.14:143819305:A:G
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.143819306A>G, NC_000007.13:g.143516399A>G, NW_018654714.1:g.363608A>G

Select item 14906629473.

rs1490662947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:143837051 (GRCh38)
7:143534144 (GRCh37)
Canonical SPDI:: NC_000007.14:143837050:C:G,NC_000007.14:143837050:C:T
Gene:: LOC154761 (Varview), LOC112267988 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000012/1 (GnomAD)
HGVS:: NC_000007.14:g.143837051C>G, NC_000007.14:g.143837051C>T, NC_000007.13:g.143534144C>G, NC_000007.13:g.143534144C>T, NW_018654714.1:g.381355C>G, NW_018654714.1:g.381355C>T, XR_002956525.2:n.289C>G, XR_002956525.2:n.289C>T, XR_002956525.1:n.53C>G, XR_002956525.1:n.53C>T, XR_002959120.2:n.289C>G, XR_002959120.2:n.289C>T, XR_002959120.1:n.53C>G, XR_002959120.1:n.53C>T

Select item 14903681444.

rs1490368144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143816514 (GRCh38)
7:143513607 (GRCh37)
Canonical SPDI:: NC_000007.14:143816513:T:C
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.143816514T>C, NC_000007.13:g.143513607T>C, NW_018654714.1:g.360816T>C

Select item 14903325235.

rs1490332523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143816894 (GRCh38)
7:143513987 (GRCh37)
Canonical SPDI:: NC_000007.14:143816893:T:C
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143816894T>C, NC_000007.13:g.143513987T>C, NW_018654714.1:g.361196T>C

Select item 14903016086.

rs1490301608 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:143818446 (GRCh38)
7:143515540 (GRCh37)
Canonical SPDI:: NC_000007.14:143818446:AAAAAA:AAAAAAA
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143818452dup, NC_000007.13:g.143515545dup, NW_018654714.1:g.362754dup

Select item 14902217277.

rs1490221727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143823583 (GRCh38)
7:143520676 (GRCh37)
Canonical SPDI:: NC_000007.14:143823582:C:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000173/24 (GnomAD)
HGVS:: NC_000007.14:g.143823583C>A, NC_000007.13:g.143520676C>A, NW_018654714.1:g.367883C>A

Select item 14902060178.

rs1490206017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143818283 (GRCh38)
7:143515376 (GRCh37)
Canonical SPDI:: NC_000007.14:143818282:G:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00004/3 (GnomAD)
HGVS:: NC_000007.14:g.143818283G>A, NC_000007.13:g.143515376G>A, NW_018654714.1:g.362585G>A

Select item 14900596189.

rs1490059618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143815012 (GRCh38)
7:143512105 (GRCh37)
Canonical SPDI:: NC_000007.14:143815011:C:T
Gene:: LOC154761 (Varview), TCAF2P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143815012C>T, NC_000007.13:g.143512105C>T, NW_018654714.1:g.359314C>T, NR_110549.1:n.1891C>T

Select item 149002615410.

rs1490026154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143821923 (GRCh38)
7:143519016 (GRCh37)
Canonical SPDI:: NC_000007.14:143821922:C:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.143821923C>A, NC_000007.13:g.143519016C>A, NW_018654714.1:g.366225C>A

Select item 148984351711.

rs1489843517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143815449 (GRCh38)
7:143512542 (GRCh37)
Canonical SPDI:: NC_000007.14:143815448:C:T
Gene:: LOC154761 (Varview), TCAF2P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00098/3 (GnomAD)
HGVS:: NC_000007.14:g.143815449C>T, NC_000007.13:g.143512542C>T, NW_018654714.1:g.359751C>T

Select item 148952488712.

rs1489524887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143823674 (GRCh38)
7:143520767 (GRCh37)
Canonical SPDI:: NC_000007.14:143823673:C:G
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.143823674C>G, NC_000007.13:g.143520767C>G, NW_018654714.1:g.367974C>G

Select item 148946249013.

rs1489462490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143824024 (GRCh38)
7:143521117 (GRCh37)
Canonical SPDI:: NC_000007.14:143824023:A:G
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143824024A>G, NC_000007.13:g.143521117A>G, NW_018654714.1:g.368324A>G

Select item 148901568314.

rs1489015683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143824916 (GRCh38)
7:143522009 (GRCh37)
Canonical SPDI:: NC_000007.14:143824915:G:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.143824916G>A, NC_000007.13:g.143522009G>A, NW_018654714.1:g.369216G>A

Select item 148898382615.

rs1488983826 [Homo sapiens]

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

Select item 148868767216.

rs1488687672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143827029 (GRCh38)
7:143524122 (GRCh37)
Canonical SPDI:: NC_000007.14:143827028:C:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.143827029C>A, NC_000007.13:g.143524122C>A, NW_018654714.1:g.371329C>A

Select item 148857179917.

rs1488571799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143823354 (GRCh38)
7:143520447 (GRCh37)
Canonical SPDI:: NC_000007.14:143823353:C:T
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143823354C>T, NC_000007.13:g.143520447C>T, NW_018654714.1:g.367654C>T

Select item 148851643718.

rs1488516437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143821728 (GRCh38)
7:143518821 (GRCh37)
Canonical SPDI:: NC_000007.14:143821727:T:C
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.143821728T>C, NC_000007.13:g.143518821T>C, NW_018654714.1:g.366030T>C

Select item 148848842719.

rs1488488427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143823666 (GRCh38)
7:143520759 (GRCh37)
Canonical SPDI:: NC_000007.14:143823665:C:A
Gene:: LOC154761 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.143823666C>A, NC_000007.13:g.143520759C>A, NW_018654714.1:g.367966C>A

Select item 148829324520.

rs1488293245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143812634 (GRCh38)
7:143509727 (GRCh37)
Canonical SPDI:: NC_000007.14:143812633:G:A
Gene:: LOC154761 (Varview), TCAF2P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00108/18 (TOMMO)
A=0.00319/8 (KOREAN)
HGVS:: NC_000007.14:g.143812634G>A, NC_000007.13:g.143509727G>A, NW_018654714.1:g.356936G>A, NR_015421.1:n.1861C>T

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