SNP Links for Gene (Select 644936) - SNP

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Select item 14914487741.

rs1491448774 has merged into rs59964544 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:80299091 (GRCh38)
5:79594910 (GRCh37)
Canonical SPDI:: NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80299083:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC644936 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.104832/525 (1000Genomes)
HGVS:: NC_000005.10:g.80299091_80299099del, NC_000005.10:g.80299092_80299099del, NC_000005.10:g.80299096_80299099del, NC_000005.10:g.80299097_80299099del, NC_000005.10:g.80299098_80299099del, NC_000005.10:g.80299099del, NC_000005.10:g.80299099dup, NC_000005.10:g.80299098_80299099dup, NC_000005.10:g.80299097_80299099dup, NC_000005.10:g.80299096_80299099dup, NC_000005.10:g.80299095_80299099dup, NC_000005.10:g.80299094_80299099dup, NC_000005.10:g.80299093_80299099dup, NC_000005.10:g.80299092_80299099dup, NC_000005.10:g.80299091_80299099dup, NC_000005.10:g.80299089_80299099dup, NC_000005.10:g.80299088_80299099dup, NC_000005.10:g.80299084_80299099T[39]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.79594910_79594918del, NC_000005.9:g.79594911_79594918del, NC_000005.9:g.79594915_79594918del, NC_000005.9:g.79594916_79594918del, NC_000005.9:g.79594917_79594918del, NC_000005.9:g.79594918del, NC_000005.9:g.79594918dup, NC_000005.9:g.79594917_79594918dup, NC_000005.9:g.79594916_79594918dup, NC_000005.9:g.79594915_79594918dup, NC_000005.9:g.79594914_79594918dup, NC_000005.9:g.79594913_79594918dup, NC_000005.9:g.79594912_79594918dup, NC_000005.9:g.79594911_79594918dup, NC_000005.9:g.79594910_79594918dup, NC_000005.9:g.79594908_79594918dup, NC_000005.9:g.79594907_79594918dup, NC_000005.9:g.79594903_79594918T[39]ATTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14910852582.

rs1491085258 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:80299083 (GRCh38)
5:79594902 (GRCh37)
Canonical SPDI:: NC_000005.10:80299081:TCT:T
Gene:: LOC644936 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000005.10:g.80299083_80299084del, NC_000005.9:g.79594902_79594903del

Select item 14903983813.

rs1490398381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:80299626 (GRCh38)
5:79595445 (GRCh37)
Canonical SPDI:: NC_000005.10:80299625:G:C,NC_000005.10:80299625:G:T
Gene:: LOC644936 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.80299626G>C, NC_000005.10:g.80299626G>T, NC_000005.9:g.79595445G>C, NC_000005.9:g.79595445G>T, NR_004845.2:n.853C>G, NR_004845.2:n.853C>A, NR_004845.1:n.853C>G, NR_004845.1:n.853C>A

Select item 14902326504.

rs1490232650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:80300107 (GRCh38)
5:79595926 (GRCh37)
Canonical SPDI:: NC_000005.10:80300106:G:T
Gene:: LOC644936 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.80300107G>T, NC_000005.9:g.79595926G>T, NR_004845.2:n.372C>A, NR_004845.1:n.372C>A

Select item 14898111765.

rs1489811176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:80300766 (GRCh38)
5:79596585 (GRCh37)
Canonical SPDI:: NC_000005.10:80300765:T:A
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.80300766T>A, NC_000005.9:g.79596585T>A

Select item 14893383206.

rs1489338320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:80300816 (GRCh38)
5:79596635 (GRCh37)
Canonical SPDI:: NC_000005.10:80300815:G:A
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.80300816G>A, NC_000005.9:g.79596635G>A

Select item 14888608037.

rs1488860803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:80301442 (GRCh38)
5:79597261 (GRCh37)
Canonical SPDI:: NC_000005.10:80301441:C:A,NC_000005.10:80301441:C:G,NC_000005.10:80301441:C:T
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.80301442C>A, NC_000005.10:g.80301442C>G, NC_000005.10:g.80301442C>T, NC_000005.9:g.79597261C>A, NC_000005.9:g.79597261C>G, NC_000005.9:g.79597261C>T

Select item 14876186438.

rs1487618643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:80301924 (GRCh38)
5:79597743 (GRCh37)
Canonical SPDI:: NC_000005.10:80301923:T:C
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000061/1 (ALFA)
C=0.00006/1 (TOMMO)
C=0.000113/15 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.80301924T>C, NC_000005.9:g.79597743T>C

Select item 14870629349.

rs1487062934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:80302030 (GRCh38)
5:79597849 (GRCh37)
Canonical SPDI:: NC_000005.10:80302029:C:T
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000035/4 (GnomAD)
HGVS:: NC_000005.10:g.80302030C>T, NC_000005.9:g.79597849C>T

Select item 148643069510.

rs1486430695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:80299753 (GRCh38)
5:79595572 (GRCh37)
Canonical SPDI:: NC_000005.10:80299752:G:T
Gene:: LOC644936 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80299753G>T, NC_000005.9:g.79595572G>T, NR_004845.2:n.726C>A, NR_004845.1:n.726C>A

Select item 148586575111.

rs1485865751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:80301877 (GRCh38)
5:79597696 (GRCh37)
Canonical SPDI:: NC_000005.10:80301876:T:C,NC_000005.10:80301876:T:G
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.004479/8 (Korea1K)
HGVS:: NC_000005.10:g.80301877T>C, NC_000005.10:g.80301877T>G, NC_000005.9:g.79597696T>C, NC_000005.9:g.79597696T>G

Select item 148444039012.

rs1484440390 [Homo sapiens]

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

Select item 148378999813.

rs1483789998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:80301236 (GRCh38)
5:79597055 (GRCh37)
Canonical SPDI:: NC_000005.10:80301235:T:A,NC_000005.10:80301235:T:G
Gene:: LOC644936 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000016/2 (GnomAD)
G=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.80301236T>A, NC_000005.10:g.80301236T>G, NC_000005.9:g.79597055T>A, NC_000005.9:g.79597055T>G

Select item 148167392814.

rs1481673928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:80301699 (GRCh38)
5:79597518 (GRCh37)
Canonical SPDI:: NC_000005.10:80301698:C:G,NC_000005.10:80301698:C:T
Gene:: LOC644936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000461/8 (TOMMO)
T=0.000468/3 (1000Genomes)
HGVS:: NC_000005.10:g.80301699C>G, NC_000005.10:g.80301699C>T, NC_000005.9:g.79597518C>G, NC_000005.9:g.79597518C>T

Select item 148163676015.

rs1481636760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:80299914 (GRCh38)
5:79595733 (GRCh37)
Canonical SPDI:: NC_000005.10:80299913:C:G,NC_000005.10:80299913:C:T
Gene:: LOC644936 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.80299914C>G, NC_000005.10:g.80299914C>T, NC_000005.9:g.79595733C>G, NC_000005.9:g.79595733C>T, NR_004845.2:n.565G>C, NR_004845.2:n.565G>A, NR_004845.1:n.565G>C, NR_004845.1:n.565G>A

Select item 148132798316.

rs1481327983 [Homo sapiens]

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

Select item 148065377417.

rs1480653774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:80302415 (GRCh38)
5:79598234 (GRCh37)
Canonical SPDI:: NC_000005.10:80302414:G:C
Gene:: LOC644936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.80302415G>C, NC_000005.9:g.79598234G>C

Select item 147942217718.

rs1479422177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:80300923 (GRCh38)
5:79596742 (GRCh37)
Canonical SPDI:: NC_000005.10:80300922:A:C,NC_000005.10:80300922:A:G
Gene:: LOC644936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00383/7 (Korea1K)
HGVS:: NC_000005.10:g.80300923A>C, NC_000005.10:g.80300923A>G, NC_000005.9:g.79596742A>C, NC_000005.9:g.79596742A>G

Select item 147901598919.

rs1479015989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:80301024 (GRCh38)
5:79596843 (GRCh37)
Canonical SPDI:: NC_000005.10:80301023:A:G
Gene:: LOC644936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000061/1 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.80301024A>G, NC_000005.9:g.79596843A>G

Select item 147888297720.

rs1478882977 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:80298603 (GRCh38)
5:79594422 (GRCh37)
Canonical SPDI:: NC_000005.10:80298602:C:
Gene:: LOC644936 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.80298603del, NC_000005.9:g.79594422del

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