SNP Links for Gene (Select 85349) - SNP

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Items: 1 to 20 of 2550

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Select item 14909279961.

rs1490927996 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTA>- [Show Flanks]
Chromosome:: 12:52259134 (GRCh38)
12:52652918 (GRCh37)
Canonical SPDI:: NC_000012.12:52259129:CCTACCTA:CCTA
Gene:: KRT87P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTACCTA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.52259130CCTA[1], NC_000012.11:g.52652914CCTA[1]

Select item 14903422802.

rs1490342280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52252491 (GRCh38)
12:52646275 (GRCh37)
Canonical SPDI:: NC_000012.12:52252490:A:G
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52252491A>G, NC_000012.11:g.52646275A>G, XM_011538325.3:c.*582A>G, XM_011538325.2:c.*582A>G, XM_011538325.1:c.*582A>G

Select item 14900306343.

rs1490030634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52253409 (GRCh38)
12:52647193 (GRCh37)
Canonical SPDI:: NC_000012.12:52253408:G:A,NC_000012.12:52253408:G:T
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52253409G>A, NC_000012.12:g.52253409G>T, NC_000012.11:g.52647193G>A, NC_000012.11:g.52647193G>T, XM_011538325.3:c.*1500G>A, XM_011538325.3:c.*1500G>T

Select item 14897426534.

rs1489742653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52254219 (GRCh38)
12:52648003 (GRCh37)
Canonical SPDI:: NC_000012.12:52254218:A:G
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.52254219A>G, NC_000012.11:g.52648003A>G, XM_011538325.3:c.*2310A>G

Select item 14895332845.

rs1489533284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52257831 (GRCh38)
12:52651615 (GRCh37)
Canonical SPDI:: NC_000012.12:52257830:A:G
Gene:: KRT87P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52257831A>G, NC_000012.11:g.52651615A>G

Select item 14892128206.

rs1489212820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52251460 (GRCh38)
12:52645244 (GRCh37)
Canonical SPDI:: NC_000012.12:52251459:C:G,NC_000012.12:52251459:C:T
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.52251460C>G, NC_000012.12:g.52251460C>T, NC_000012.11:g.52645244C>G, NC_000012.11:g.52645244C>T

Select item 14890621267.

rs1489062126 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:52257207 (GRCh38)
12:52650991 (GRCh37)
Canonical SPDI:: NC_000012.12:52257206:GG:G
Gene:: KRT87P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000425/7 (TOMMO)
HGVS:: NC_000012.12:g.52257208del, NC_000012.11:g.52650992del

Select item 14886411088.

rs1488641108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52255309 (GRCh38)
12:52649093 (GRCh37)
Canonical SPDI:: NC_000012.12:52255308:T:C
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.52255309T>C, NC_000012.11:g.52649093T>C, XM_011538325.3:c.*3400T>C

Select item 14885718769.

rs1488571876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52253737 (GRCh38)
12:52647521 (GRCh37)
Canonical SPDI:: NC_000012.12:52253736:G:A
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52253737G>A, NC_000012.11:g.52647521G>A, XM_011538325.3:c.*1828G>A, NR_146088.1:n.729C>T

Select item 148760734210.

rs1487607342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52259411 (GRCh38)
12:52653195 (GRCh37)
Canonical SPDI:: NC_000012.12:52259410:C:G
Gene:: KRT87P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52259411C>G, NC_000012.11:g.52653195C>G

Select item 148757714311.

rs1487577143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52258544 (GRCh38)
12:52652328 (GRCh37)
Canonical SPDI:: NC_000012.12:52258543:G:A
Gene:: KRT87P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52258544G>A, NC_000012.11:g.52652328G>A

Select item 148734248312.

rs1487342483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52252207 (GRCh38)
12:52645991 (GRCh37)
Canonical SPDI:: NC_000012.12:52252206:C:A
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52252207C>A, NC_000012.11:g.52645991C>A, XM_011538325.3:c.*298C>A, XM_011538325.2:c.*298C>A, XM_011538325.1:c.*298C>A

Select item 148731231813.

rs1487312318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52251104 (GRCh38)
12:52644888 (GRCh37)
Canonical SPDI:: NC_000012.12:52251103:C:T
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52251104C>T, NC_000012.11:g.52644888C>T

Select item 148672831814.

rs1486728318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52256081 (GRCh38)
12:52649865 (GRCh37)
Canonical SPDI:: NC_000012.12:52256080:T:C
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52256081T>C, NC_000012.11:g.52649865T>C, NR_146088.1:n.501A>G

Select item 148658705015.

rs1486587050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52252385 (GRCh38)
12:52646169 (GRCh37)
Canonical SPDI:: NC_000012.12:52252384:G:A
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52252385G>A, NC_000012.11:g.52646169G>A, XM_011538325.3:c.*476G>A, XM_011538325.2:c.*476G>A, XM_011538325.1:c.*476G>A, NR_146088.1:n.1088C>T

Select item 148635617616.

rs1486356176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52255360 (GRCh38)
12:52649144 (GRCh37)
Canonical SPDI:: NC_000012.12:52255359:G:A,NC_000012.12:52255359:G:T
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52255360G>A, NC_000012.12:g.52255360G>T, NC_000012.11:g.52649144G>A, NC_000012.11:g.52649144G>T, XM_011538325.3:c.*3451G>A, XM_011538325.3:c.*3451G>T, NR_146088.1:n.594C>T, NR_146088.1:n.594C>A

Select item 148602478417.

rs1486024784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52255367 (GRCh38)
12:52649151 (GRCh37)
Canonical SPDI:: NC_000012.12:52255366:A:C
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52255367A>C, NC_000012.11:g.52649151A>C, XM_011538325.3:c.*3458A>C, NR_146088.1:n.587T>G

Select item 148564021218.

rs1485640212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52260427 (GRCh38)
12:52654211 (GRCh37)
Canonical SPDI:: NC_000012.12:52260426:T:C
Gene:: KRT87P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.52260427T>C, NC_000012.11:g.52654211T>C

Select item 148561602319.

rs1485616023 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 12:52250557 (GRCh38)
12:52644342 (GRCh37)
Canonical SPDI:: NC_000012.12:52250557::TC
Gene:: KRT7 (Varview), KRT87P (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.000224/1 (ALFA)
TC=0.000007/1 (GnomAD)
TC=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.52250557_52250558insTC, NC_000012.11:g.52644341_52644342insTC, NG_012296.1:g.22388_22389insTC, NR_146088.1:n.1327_1328insGA

Select item 148561067720.

rs1485610677 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:52259314 (GRCh38)
12:52653098 (GRCh37)
Canonical SPDI:: NC_000012.12:52259313:CC:C
Gene:: KRT87P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52259315del, NC_000012.11:g.52653099del

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