SNP Links for Gene (Select 2817) - SNP

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Select item 14909622901.

rs1490962290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:240461274 (GRCh38)
2:241400691 (GRCh37)
Canonical SPDI:: NC_000002.12:240461273:C:G
Gene:: GPC1 (Varview)
Functional Consequence:: 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_000002.12:g.240461274C>G, NC_000002.11:g.241400691C>G

Select item 14908312362.

rs1490831236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:240444971 (GRCh38)
2:241384388 (GRCh37)
Canonical SPDI:: NC_000002.12:240444970:C:G
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240444971C>G, NC_000002.11:g.241384388C>G

Select item 14907732323.

rs1490773232 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:240456679 (GRCh38)
2:241396096 (GRCh37)
Canonical SPDI:: NC_000002.12:240456678:C:
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240456679del, NC_000002.11:g.241396096del, NR_024014.1:n.22del, NR_161169.1:n.22del, NM_001359125.1:c.-16del

Select item 14906635764.

rs1490663576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240459597 (GRCh38)
2:241399014 (GRCh37)
Canonical SPDI:: NC_000002.12:240459596:G:A
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240459597G>A, NC_000002.11:g.241399014G>A

Select item 14905775065.

rs1490577506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240451011 (GRCh38)
2:241390428 (GRCh37)
Canonical SPDI:: NC_000002.12:240451010:G:A
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240451011G>A, NC_000002.11:g.241390428G>A, NR_024014.1:n.425C>T

Select item 14904630106.

rs1490463010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:240461624 (GRCh38)
2:241401041 (GRCh37)
Canonical SPDI:: NC_000002.12:240461623:G:A,NC_000002.12:240461623:G:T
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.240461624G>A, NC_000002.12:g.240461624G>T, NC_000002.11:g.241401041G>A, NC_000002.11:g.241401041G>T

Select item 14903454107.

rs1490345410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240435114 (GRCh38)
2:241374531 (GRCh37)
Canonical SPDI:: NC_000002.12:240435113:C:T
Gene:: GPC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240435114C>T, NC_000002.11:g.241374531C>T

Select item 14902756478.

rs1490275647 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:240446059 (GRCh38)
2:241385477 (GRCh37)
Canonical SPDI:: NC_000002.12:240446059:GGGG:GGGGG
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.240446063dup, NC_000002.11:g.241385480dup

Select item 14902679589.

rs1490267958 [Homo sapiens]

Variant type:: DEL
Alleles:: TGGCTGACGGCGCC>- [Show Flanks]
Chromosome:: 2:240456201 (GRCh38)
2:241395618 (GRCh37)
Canonical SPDI:: NC_000002.12:240456200:TGGCTGACGGCGCC:
Gene:: GPC1 (Varview), MIR149 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240456201_240456214del, NC_000002.11:g.241395618_241395631del, XM_047443961.1:c.-87_-74del

Select item 149017349010.

rs1490173490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240460232 (GRCh38)
2:241399649 (GRCh37)
Canonical SPDI:: NC_000002.12:240460231:G:A
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.240460232G>A, NC_000002.11:g.241399649G>A

Select item 149012093311.

rs1490120933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240458691 (GRCh38)
2:241398108 (GRCh37)
Canonical SPDI:: NC_000002.12:240458690:C:T
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.240458691C>T, NC_000002.11:g.241398108C>T

Select item 149006316712.

rs1490063167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:240440719 (GRCh38)
2:241380136 (GRCh37)
Canonical SPDI:: NC_000002.12:240440718:G:T
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.240440719G>T, NC_000002.11:g.241380136G>T

Select item 148999646413.

rs1489996464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:240452050 (GRCh38)
2:241391467 (GRCh37)
Canonical SPDI:: NC_000002.12:240452049:G:C
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.240452050G>C, NC_000002.11:g.241391467G>C

Select item 148985949714.

rs1489859497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:240435275 (GRCh38)
2:241374692 (GRCh37)
Canonical SPDI:: NC_000002.12:240435274:G:A,NC_000002.12:240435274:G:C
Gene:: GPC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240435275G>A, NC_000002.12:g.240435275G>C, NC_000002.11:g.241374692G>A, NC_000002.11:g.241374692G>C

Select item 148980620315.

rs1489806203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:240447210 (GRCh38)
2:241386627 (GRCh37)
Canonical SPDI:: NC_000002.12:240447209:A:T
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000002.12:g.240447210A>T, NC_000002.11:g.241386627A>T

Select item 148975177116.

rs1489751771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:240456423 (GRCh38)
2:241395840 (GRCh37)
Canonical SPDI:: NC_000002.12:240456422:T:A
Gene:: GPC1 (Varview), MIR149 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240456423T>A, NC_000002.11:g.241395840T>A

Select item 148972537717.

rs1489725377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240440839 (GRCh38)
2:241380256 (GRCh37)
Canonical SPDI:: NC_000002.12:240440838:G:A
Gene:: GPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000354/6 (TOMMO)
HGVS:: NC_000002.12:g.240440839G>A, NC_000002.11:g.241380256G>A

Select item 148970982218.

rs1489709822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240452822 (GRCh38)
2:241392239 (GRCh37)
Canonical SPDI:: NC_000002.12:240452821:G:A
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.240452822G>A, NC_000002.11:g.241392239G>A

Select item 148961764619.

rs1489617646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240457083 (GRCh38)
2:241396500 (GRCh37)
Canonical SPDI:: NC_000002.12:240457082:G:A
Gene:: GPC1 (Varview), GPC1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240457083G>A, NC_000002.11:g.241396500G>A

Select item 148956934620.

rs1489569346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:240461095 (GRCh38)
2:241400512 (GRCh37)
Canonical SPDI:: NC_000002.12:240461094:C:G,NC_000002.12:240461094:C:T
Gene:: GPC1 (Varview)
Functional Consequence:: intron_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_000002.12:g.240461095C>G, NC_000002.12:g.240461095C>T, NC_000002.11:g.241400512C>G, NC_000002.11:g.241400512C>T

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