SNP Links for Gene (Select 93164) - SNP

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Select item 14895428301.

rs1489542830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:12999431 (GRCh38)
12:13152365 (GRCh37)
Canonical SPDI:: NC_000012.12:12999430:A:G
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.12999431A>G, NC_000012.11:g.13152365A>G

Select item 14886564522.

rs1488656452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:13001339 (GRCh38)
12:13154273 (GRCh37)
Canonical SPDI:: NC_000012.12:13001338:A:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000012.12:g.13001339A>T, NC_000012.11:g.13154273A>T, NR_002774.3:n.898A>T

Select item 14885854973.

rs1488585497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:13003570 (GRCh38)
12:13156504 (GRCh37)
Canonical SPDI:: NC_000012.12:13003569:T:A
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.13003570T>A, NC_000012.11:g.13156504T>A, NR_002774.3:n.3129T>A

Select item 14883239424.

rs1488323942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:13004812 (GRCh38)
12:13157746 (GRCh37)
Canonical SPDI:: NC_000012.12:13004811:A:G
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.13004812A>G, NC_000012.11:g.13157746A>G, NR_002774.3:n.4371A>G

Select item 14882017375.

rs1488201737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:13003055 (GRCh38)
12:13155989 (GRCh37)
Canonical SPDI:: NC_000012.12:13003054:T:C
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_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.13003055T>C, NC_000012.11:g.13155989T>C, NR_002774.3:n.2614T>C

Select item 14880607716.

rs1488060771 has merged into rs1448097465 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGCAGGG>-,TGGCAGGGTGGCAGGG [Show Flanks]
Chromosome:: 12:13000235 (GRCh38)
12:13153169 (GRCh37)
Canonical SPDI:: NC_000012.12:13000227:GGCAGGGTGGCAGGG:GGCAGGG,NC_000012.12:13000227:GGCAGGGTGGCAGGG:GGCAGGGTGGCAGGGTGGCAGGG
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCAGGGTGGCAGGGTGGCAGGG=0./0 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00113/2 (Korea1K)
HGVS:: NC_000012.12:g.13000235_13000242del, NC_000012.12:g.13000235_13000242dup, NC_000012.11:g.13153169_13153176del, NC_000012.11:g.13153169_13153176dup, NM_015987.5:c.-121_-114del, NM_015987.5:c.-121_-114dup, NM_015987.4:c.-121_-114del, NM_015987.4:c.-121_-114dup

Select item 14875985057.

rs1487598505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 12:13002914 (GRCh38)
12:13155849 (GRCh37)
Canonical SPDI:: NC_000012.12:13002914:GGAA:GGAAGGAA
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAAGGAA=0./0 (ALFA)
GGAA=0.000004/1 (TOPMED)
GGAA=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.13002915_13002918dup, NC_000012.11:g.13155849_13155852dup, NR_002774.3:n.2474_2477dup

Select item 14867675988.

rs1486767598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:13001282 (GRCh38)
12:13154216 (GRCh37)
Canonical SPDI:: NC_000012.12:13001281:C:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_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_000012.12:g.13001282C>T, NC_000012.11:g.13154216C>T, NR_002774.3:n.841C>T

Select item 14866121169.

rs1486612116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:13001460 (GRCh38)
12:13154394 (GRCh37)
Canonical SPDI:: NC_000012.12:13001459:G:A,NC_000012.12:13001459:G:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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.13001460G>A, NC_000012.12:g.13001460G>T, NC_000012.11:g.13154394G>A, NC_000012.11:g.13154394G>T, NR_002774.3:n.1019G>A, NR_002774.3:n.1019G>T

Select item 148576994510.

rs1485769945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:13000353 (GRCh38)
12:13153287 (GRCh37)
Canonical SPDI:: NC_000012.12:13000352:G:A
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,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.13000353G>A, NC_000012.11:g.13153287G>A

Select item 148563343411.

rs1485633434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:13002334 (GRCh38)
12:13155268 (GRCh37)
Canonical SPDI:: NC_000012.12:13002333:G:C,NC_000012.12:13002333:G:T
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.13002334G>C, NC_000012.12:g.13002334G>T, NC_000012.11:g.13155268G>C, NC_000012.11:g.13155268G>T, NR_002774.3:n.1893G>C, NR_002774.3:n.1893G>T

Select item 148561164912.

rs1485611649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:13001152 (GRCh38)
12:13154086 (GRCh37)
Canonical SPDI:: NC_000012.12:13001151:C:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.13001152C>T, NC_000012.11:g.13154086C>T, NR_002774.3:n.711C>T

Select item 148503991513.

rs1485039915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:13001800 (GRCh38)
12:13154734 (GRCh37)
Canonical SPDI:: NC_000012.12:13001799:C:G
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.13001800C>G, NC_000012.11:g.13154734C>G, NR_002774.3:n.1359C>G

Select item 148478959114.

rs1484789591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:13000665 (GRCh38)
12:13153599 (GRCh37)
Canonical SPDI:: NC_000012.12:13000664:C:G
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.13000665C>G, NC_000012.11:g.13153599C>G, NR_002774.3:n.224C>G

Select item 148439605415.

rs1484396054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:13000393 (GRCh38)
12:13153327 (GRCh37)
Canonical SPDI:: NC_000012.12:13000392:G:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.13000393G>T, NC_000012.11:g.13153327G>T

Select item 148408793116.

rs1484087931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:13001451 (GRCh38)
12:13154385 (GRCh37)
Canonical SPDI:: NC_000012.12:13001450:G:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.13001451G>T, NC_000012.11:g.13154385G>T, NR_002774.3:n.1010G>T

Select item 148407677917.

rs1484076779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:13002208 (GRCh38)
12:13155142 (GRCh37)
Canonical SPDI:: NC_000012.12:13002207:G:T
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.13002208G>T, NC_000012.11:g.13155142G>T, NR_002774.3:n.1767G>T

Select item 148383749718.

rs1483837497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:13002635 (GRCh38)
12:13155569 (GRCh37)
Canonical SPDI:: NC_000012.12:13002634:T:C
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_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_000012.12:g.13002635T>C, NC_000012.11:g.13155569T>C, NR_002774.3:n.2194T>C

Select item 148382105419.

rs1483821054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:12998590 (GRCh38)
12:13151524 (GRCh37)
Canonical SPDI:: NC_000012.12:12998589:T:C,NC_000012.12:12998589:T:G
Gene:: HEBP1 (Varview), HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000106/2 (TOMMO)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.12998590T>C, NC_000012.12:g.12998590T>G, NC_000012.11:g.13151524T>C, NC_000012.11:g.13151524T>G

Select item 148318254220.

rs1483182542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:13004992 (GRCh38)
12:13157926 (GRCh37)
Canonical SPDI:: NC_000012.12:13004991:G:A
Gene:: HTR7P1 (Varview), GPRC5D-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.13004992G>A, NC_000012.11:g.13157926G>A