SNP Links for Gene (Select 100240728) - SNP

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Select item 14907069491.

rs1490706949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:56484975 (GRCh38)
7:56552668 (GRCh37)
Canonical SPDI:: NC_000007.14:56484974:T:C
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000071/1 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.56484975T>C, NC_000007.13:g.56552668T>C

Select item 14901689502.

rs1490168950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56481780 (GRCh38)
7:56549473 (GRCh37)
Canonical SPDI:: NC_000007.14:56481779:G:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000007.14:g.56481780G>A, NC_000007.13:g.56549473G>A

Select item 14882238603.

rs1488223860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:56483965 (GRCh38)
7:56551658 (GRCh37)
Canonical SPDI:: NC_000007.14:56483964:G:T
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.56483965G>T, NC_000007.13:g.56551658G>T

Select item 14851134514.

rs1485113451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56482298 (GRCh38)
7:56549991 (GRCh37)
Canonical SPDI:: NC_000007.14:56482297:G:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.56482298G>A, NC_000007.13:g.56549991G>A, NR_108095.1:n.504C>T

Select item 14850196195.

rs1485019619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:56484163 (GRCh38)
7:56551856 (GRCh37)
Canonical SPDI:: NC_000007.14:56484162:G:A,NC_000007.14:56484162:G:C
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56484163G>A, NC_000007.14:g.56484163G>C, NC_000007.13:g.56551856G>A, NC_000007.13:g.56551856G>C, XR_007060332.1:n.159G>A, XR_007060332.1:n.159G>C, XR_007060333.1:n.159G>A, XR_007060333.1:n.159G>C

Select item 14849986656.

rs1484998665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56485314 (GRCh38)
7:56553007 (GRCh37)
Canonical SPDI:: NC_000007.14:56485313:G:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.56485314G>A, NC_000007.13:g.56553007G>A

Select item 14849894927.

rs1484989492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:56481803 (GRCh38)
7:56549496 (GRCh37)
Canonical SPDI:: NC_000007.14:56481802:T:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56481803T>A, NC_000007.13:g.56549496T>A

Select item 14841686648.

rs1484168664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:56483718 (GRCh38)
7:56551411 (GRCh37)
Canonical SPDI:: NC_000007.14:56483717:G:C
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56483718G>C, NC_000007.13:g.56551411G>C

Select item 14841332129.

rs1484133212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56482822 (GRCh38)
7:56550515 (GRCh37)
Canonical SPDI:: NC_000007.14:56482821:C:T
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.56482822C>T, NC_000007.13:g.56550515C>T

Select item 148188650310.

rs1481886503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 7:56484605 (GRCh38)
7:56552298 (GRCh37)
Canonical SPDI:: NC_000007.14:56484601:ATTATT:ATT
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.56484602ATT[1], NC_000007.13:g.56552295ATT[1]

Select item 148184201811.

rs1481842018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56483309 (GRCh38)
7:56551002 (GRCh37)
Canonical SPDI:: NC_000007.14:56483308:A:G
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.56483309A>G, NC_000007.13:g.56551002A>G, XR_007060331.1:n.187A>G, NR_108095.1:n.11T>C

Select item 148177839112.

rs1481778391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56484564 (GRCh38)
7:56552257 (GRCh37)
Canonical SPDI:: NC_000007.14:56484563:G:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000072/19 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.001097/18 (TOMMO)
A=0.002053/6 (KOREAN)
HGVS:: NC_000007.14:g.56484564G>A, NC_000007.13:g.56552257G>A

Select item 148176693013.

rs1481766930 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 7:56481657 (GRCh38)
7:56549350 (GRCh37)
Canonical SPDI:: NC_000007.14:56481654:AGTAG:AG
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.56481657_56481659del, NC_000007.13:g.56549350_56549352del

Select item 148125338814.

rs1481253388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:56484211 (GRCh38)
7:56551904 (GRCh37)
Canonical SPDI:: NC_000007.14:56484210:T:C
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.56484211T>C, NC_000007.13:g.56551904T>C

Select item 147921879115.

rs1479218791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:56483291 (GRCh38)
7:56550984 (GRCh37)
Canonical SPDI:: NC_000007.14:56483290:T:G
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.56483291T>G, NC_000007.13:g.56550984T>G, XR_007060331.1:n.169T>G, NR_108095.1:n.29A>C

Select item 147815715316.

rs1478157153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56482692 (GRCh38)
7:56550385 (GRCh37)
Canonical SPDI:: NC_000007.14:56482691:G:A
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.56482692G>A, NC_000007.13:g.56550385G>A

Select item 147518652717.

rs1475186527 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 7:56482032 (GRCh38)
7:56549725 (GRCh37)
Canonical SPDI:: NC_000007.14:56482031:CCCCCC:CCCCC,NC_000007.14:56482031:CCCCCC:CCCCCCC
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56482037del, NC_000007.14:g.56482037dup, NC_000007.13:g.56549730del, NC_000007.13:g.56549730dup

Select item 147470027818.

rs1474700278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56482385 (GRCh38)
7:56550078 (GRCh37)
Canonical SPDI:: NC_000007.14:56482384:C:T
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.56482385C>T, NC_000007.13:g.56550078C>T, NR_108095.1:n.417G>A

Select item 147437726919.

rs1474377269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:56481881 (GRCh38)
7:56549574 (GRCh37)
Canonical SPDI:: NC_000007.14:56481880:T:C
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56481881T>C, NC_000007.13:g.56549574T>C

Select item 147342833120.

rs1473428331 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:56484383 (GRCh38)
7:56552077 (GRCh37)
Canonical SPDI:: NC_000007.14:56484383:A:AA
Gene:: LOC100240728 (Varview), LOC124901640 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000086/12 (GnomAD)
HGVS:: NC_000007.14:g.56484384dup, NC_000007.13:g.56552077dup

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