SNP Links for Gene (Select 8511) - SNP

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Select item 14915723221.

rs1491572322 has merged into rs372203947 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 1:1701572 (GRCh38)
1:1633011 (GRCh37)
Canonical SPDI:: NC_000001.11:1701564:GGGGGGGGG:GGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:1701564:GGGGGGGGG:GGGGGGGGGGGGGG
Gene:: MMP23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.1701572_1701573del, NC_000001.11:g.1701573del, NC_000001.11:g.1701573dup, NC_000001.11:g.1701572_1701573dup, NC_000001.11:g.1701571_1701573dup, NC_000001.11:g.1701570_1701573dup, NC_000001.11:g.1701569_1701573dup, NC_000001.10:g.1633011_1633012del, NC_000001.10:g.1633012del, NC_000001.10:g.1633012dup, NC_000001.10:g.1633011_1633012dup, NC_000001.10:g.1633010_1633012dup, NC_000001.10:g.1633009_1633012dup, NC_000001.10:g.1633008_1633012dup, NG_029414.1:g.27787_27788del, NG_029414.1:g.27788del, NG_029414.1:g.27788dup, NG_029414.1:g.27787_27788dup, NG_029414.1:g.27786_27788dup, NG_029414.1:g.27785_27788dup, NG_029414.1:g.27784_27788dup

Select item 14915039412.

rs1491503941 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:1699217 (GRCh38)
1:1630656 (GRCh37)
Canonical SPDI:: NC_000001.11:1699211:CACACAC:CACAC
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1699213AC[2], NC_000001.10:g.1630652AC[2]

Select item 14913314993.

rs1491331499 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:1699212 (GRCh38)
1:1630652 (GRCh37)
Canonical SPDI:: NC_000001.11:1699212:A:AA
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1699213dup, NC_000001.10:g.1630652dup

Select item 14909599924.

rs1490959992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:1697955 (GRCh38)
1:1629394 (GRCh37)
Canonical SPDI:: NC_000001.11:1697954:G:A,NC_000001.11:1697954:G:C
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00034/1 (KOREAN)
A=0.00055/1 (Korea1K)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.1697955G>A, NC_000001.11:g.1697955G>C, NC_000001.10:g.1629394G>A, NC_000001.10:g.1629394G>C

Select item 14902501845.

rs1490250184 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:1699190 (GRCh38)
1:1630629 (GRCh37)
Canonical SPDI:: NC_000001.11:1699187:ACAC:AC
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000001.11:g.1699188AC[1], NC_000001.10:g.1630627AC[1]

Select item 14899808126.

rs1489980812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1698569 (GRCh38)
1:1630008 (GRCh37)
Canonical SPDI:: NC_000001.11:1698568:G:A
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.1698569G>A, NC_000001.10:g.1630008G>A

Select item 14881830567.

rs1488183056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1701191 (GRCh38)
1:1632630 (GRCh37)
Canonical SPDI:: NC_000001.11:1701190:G:A
Gene:: MMP23A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1701191G>A, NC_000001.10:g.1632630G>A, NG_029414.1:g.28162C>T, NR_002946.1:n.511G>A

Select item 14880090778.

rs1488009077 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:1698278 (GRCh38)
1:1629717 (GRCh37)
Canonical SPDI:: NC_000001.11:1698277:CT:
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00093/11 (ALFA)
-=0.00057/57 (GnomAD)
HGVS:: NC_000001.11:g.1698278_1698279del, NC_000001.10:g.1629717_1629718del

Select item 14876602439.

rs1487660243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1698827 (GRCh38)
1:1630266 (GRCh37)
Canonical SPDI:: NC_000001.11:1698826:A:G
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
G=0.00016/1 (1000Genomes)
G=0.00023/6 (GnomAD)
HGVS:: NC_000001.11:g.1698827A>G, NC_000001.10:g.1630266A>G

Select item 148722455710.

rs1487224557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1701695 (GRCh38)
1:1633134 (GRCh37)
Canonical SPDI:: NC_000001.11:1701694:C:T
Gene:: MMP23A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1701695C>T, NC_000001.10:g.1633134C>T, NG_029414.1:g.27658G>A, NR_002946.1:n.793C>T

Select item 148717524111.

rs1487175241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1701228 (GRCh38)
1:1632667 (GRCh37)
Canonical SPDI:: NC_000001.11:1701227:C:T
Gene:: MMP23A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1701228C>T, NC_000001.10:g.1632667C>T, NG_029414.1:g.28125G>A, NR_002946.1:n.548C>T

Select item 148668223812.

rs1486682238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1701647 (GRCh38)
1:1633086 (GRCh37)
Canonical SPDI:: NC_000001.11:1701646:C:T
Gene:: MMP23A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000019/1 (GnomAD)
HGVS:: NC_000001.11:g.1701647C>T, NC_000001.10:g.1633086C>T, NG_029414.1:g.27706G>A, NR_002946.1:n.745C>T

Select item 148637863113.

rs1486378631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1699580 (GRCh38)
1:1631019 (GRCh37)
Canonical SPDI:: NC_000001.11:1699579:G:A
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1699580G>A, NC_000001.10:g.1631019G>A

Select item 148618861414.

rs1486188614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1701414 (GRCh38)
1:1632853 (GRCh37)
Canonical SPDI:: NC_000001.11:1701413:A:G
Gene:: MMP23A (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.1701414A>G, NC_000001.10:g.1632853A>G, NG_029414.1:g.27939T>C, NR_002946.1:n.632A>G

Select item 148602845615.

rs1486028456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:1698159 (GRCh38)
1:1629598 (GRCh37)
Canonical SPDI:: NC_000001.11:1698158:C:G,NC_000001.11:1698158:C:T
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00031/11 (GnomAD)
G=0.00071/20 (TOMMO)
G=0.04213/122 (KOREAN)
HGVS:: NC_000001.11:g.1698159C>G, NC_000001.11:g.1698159C>T, NC_000001.10:g.1629598C>G, NC_000001.10:g.1629598C>T

Select item 148532945716.

rs1485329457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1698929 (GRCh38)
1:1630368 (GRCh37)
Canonical SPDI:: NC_000001.11:1698928:C:T
Gene:: MMP23A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.1698929C>T, NC_000001.10:g.1630368C>T

Select item 148439432317.

rs1484394323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:1699342 (GRCh38)
1:1630781 (GRCh37)
Canonical SPDI:: NC_000001.11:1699341:G:A,NC_000001.11:1699341:G:C
Gene:: MMP23A (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)
A=0.000344/1 (KOREAN)
HGVS:: NC_000001.11:g.1699342G>A, NC_000001.11:g.1699342G>C, NC_000001.10:g.1630781G>A, NC_000001.10:g.1630781G>C

Select item 148411544618.

rs1484115446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:1701138 (GRCh38)
1:1632577 (GRCh37)
Canonical SPDI:: NC_000001.11:1701137:C:G
Gene:: MMP23A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.1701138C>G, NC_000001.10:g.1632577C>G, NG_029414.1:g.28215G>C

Select item 148351733219.

rs1483517332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:1699687 (GRCh38)
1:1631126 (GRCh37)
Canonical SPDI:: NC_000001.11:1699686:T:G
Gene:: MMP23A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1699687T>G, NC_000001.10:g.1631126T>G

Select item 148345562220.

rs1483455622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:1701124 (GRCh38)
1:1632563 (GRCh37)
Canonical SPDI:: NC_000001.11:1701123:C:A
Gene:: MMP23A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.1701124C>A, NC_000001.10:g.1632563C>A, NG_029414.1:g.28229G>T

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