SNP Links for Gene (Select 10893) - SNP

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Select item 14915093641.

rs1491509364 has merged into rs11335936 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:35261805 (GRCh38)
20:33849608 (GRCh37)
Canonical SPDI:: NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35261795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35261805_35261818del, NC_000020.11:g.35261807_35261818del, NC_000020.11:g.35261808_35261818del, NC_000020.11:g.35261809_35261818del, NC_000020.11:g.35261811_35261818del, NC_000020.11:g.35261813_35261818del, NC_000020.11:g.35261814_35261818del, NC_000020.11:g.35261815_35261818del, NC_000020.11:g.35261816_35261818del, NC_000020.11:g.35261817_35261818del, NC_000020.11:g.35261818del, NC_000020.11:g.35261818dup, NC_000020.11:g.35261817_35261818dup, NC_000020.11:g.35261816_35261818dup, NC_000020.11:g.35261815_35261818dup, NC_000020.11:g.35261814_35261818dup, NC_000020.11:g.35261813_35261818dup, NC_000020.11:g.35261812_35261818dup, NC_000020.11:g.35261811_35261818dup, NC_000020.11:g.35261810_35261818dup, NC_000020.10:g.33849608_33849621del, NC_000020.10:g.33849610_33849621del, NC_000020.10:g.33849611_33849621del, NC_000020.10:g.33849612_33849621del, NC_000020.10:g.33849614_33849621del, NC_000020.10:g.33849616_33849621del, NC_000020.10:g.33849617_33849621del, NC_000020.10:g.33849618_33849621del, NC_000020.10:g.33849619_33849621del, NC_000020.10:g.33849620_33849621del, NC_000020.10:g.33849621del, NC_000020.10:g.33849621dup, NC_000020.10:g.33849620_33849621dup, NC_000020.10:g.33849619_33849621dup, NC_000020.10:g.33849618_33849621dup, NC_000020.10:g.33849617_33849621dup, NC_000020.10:g.33849616_33849621dup, NC_000020.10:g.33849615_33849621dup, NC_000020.10:g.33849614_33849621dup, NC_000020.10:g.33849613_33849621dup

Select item 14914101222.

rs1491410122 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:35261795 (GRCh38)
20:33849598 (GRCh37)
Canonical SPDI:: NC_000020.11:35261794:CT:
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000020.11:g.35261795_35261796del, NC_000020.10:g.33849598_33849599del

Select item 14912762603.

rs1491276260 has merged into rs35806814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35266187 (GRCh38)
20:33853990 (GRCh37)
Canonical SPDI:: NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35266175:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35266187_35266202del, NC_000020.11:g.35266188_35266202del, NC_000020.11:g.35266189_35266202del, NC_000020.11:g.35266190_35266202del, NC_000020.11:g.35266191_35266202del, NC_000020.11:g.35266192_35266202del, NC_000020.11:g.35266193_35266202del, NC_000020.11:g.35266194_35266202del, NC_000020.11:g.35266195_35266202del, NC_000020.11:g.35266196_35266202del, NC_000020.11:g.35266197_35266202del, NC_000020.11:g.35266198_35266202del, NC_000020.11:g.35266199_35266202del, NC_000020.11:g.35266200_35266202del, NC_000020.11:g.35266201_35266202del, NC_000020.11:g.35266202del, NC_000020.11:g.35266202dup, NC_000020.11:g.35266201_35266202dup, NC_000020.11:g.35266200_35266202dup, NC_000020.11:g.35266199_35266202dup, NC_000020.11:g.35266198_35266202dup, NC_000020.11:g.35266197_35266202dup, NC_000020.11:g.35266196_35266202dup, NC_000020.10:g.33853990_33854005del, NC_000020.10:g.33853991_33854005del, NC_000020.10:g.33853992_33854005del, NC_000020.10:g.33853993_33854005del, NC_000020.10:g.33853994_33854005del, NC_000020.10:g.33853995_33854005del, NC_000020.10:g.33853996_33854005del, NC_000020.10:g.33853997_33854005del, NC_000020.10:g.33853998_33854005del, NC_000020.10:g.33853999_33854005del, NC_000020.10:g.33854000_33854005del, NC_000020.10:g.33854001_33854005del, NC_000020.10:g.33854002_33854005del, NC_000020.10:g.33854003_33854005del, NC_000020.10:g.33854004_33854005del, NC_000020.10:g.33854005del, NC_000020.10:g.33854005dup, NC_000020.10:g.33854004_33854005dup, NC_000020.10:g.33854003_33854005dup, NC_000020.10:g.33854002_33854005dup, NC_000020.10:g.33854001_33854005dup, NC_000020.10:g.33854000_33854005dup, NC_000020.10:g.33853999_33854005dup

Select item 14912295224.

rs1491229522 has merged into rs10710875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35236987 (GRCh38)
20:33824790 (GRCh37)
Canonical SPDI:: NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35236973:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000020.11:g.35236987_35236995del, NC_000020.11:g.35236989_35236995del, NC_000020.11:g.35236990_35236995del, NC_000020.11:g.35236991_35236995del, NC_000020.11:g.35236992_35236995del, NC_000020.11:g.35236993_35236995del, NC_000020.11:g.35236994_35236995del, NC_000020.11:g.35236995del, NC_000020.11:g.35236995dup, NC_000020.11:g.35236994_35236995dup, NC_000020.11:g.35236993_35236995dup, NC_000020.11:g.35236992_35236995dup, NC_000020.11:g.35236990_35236995dup, NC_000020.11:g.35236995_35236996insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.35236995_35236996insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33824790_33824798del, NC_000020.10:g.33824792_33824798del, NC_000020.10:g.33824793_33824798del, NC_000020.10:g.33824794_33824798del, NC_000020.10:g.33824795_33824798del, NC_000020.10:g.33824796_33824798del, NC_000020.10:g.33824797_33824798del, NC_000020.10:g.33824798del, NC_000020.10:g.33824798dup, NC_000020.10:g.33824797_33824798dup, NC_000020.10:g.33824796_33824798dup, NC_000020.10:g.33824795_33824798dup, NC_000020.10:g.33824793_33824798dup, NC_000020.10:g.33824798_33824799insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33824798_33824799insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911399835.

rs1491139983 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35236973 (GRCh38)
20:33824776 (GRCh37)
Canonical SPDI:: NC_000020.11:35236972:CA:
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.35236973_35236974del, NC_000020.10:g.33824776_33824777del

Select item 14911352886.

rs1491135288 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:35266351 (GRCh38)
20:33854154 (GRCh37)
Canonical SPDI:: NC_000020.11:35266350:CA:
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
-=0.00049/13 (TOMMO)
HGVS:: NC_000020.11:g.35266351_35266352del, NC_000020.10:g.33854154_33854155del

Select item 14910735247.

rs1491073524 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:35253272 (GRCh38)
20:33841076 (GRCh37)
Canonical SPDI:: NC_000020.11:35253272::A
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00022/14 (GnomAD)
HGVS:: NC_000020.11:g.35253272_35253273insA, NC_000020.10:g.33841075_33841076insA

Select item 14910419028.

rs1491041902 has merged into rs11479770 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 20:35248317 (GRCh38)
20:33836120 (GRCh37)
Canonical SPDI:: NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:35248306:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.175/7 (GENOME_DK)
HGVS:: NC_000020.11:g.35248317_35248320del, NC_000020.11:g.35248318_35248320del, NC_000020.11:g.35248319_35248320del, NC_000020.11:g.35248320del, NC_000020.11:g.35248320dup, NC_000020.11:g.35248319_35248320dup, NC_000020.11:g.35248317_35248320dup, NC_000020.11:g.35248316_35248320dup, NC_000020.10:g.33836120_33836123del, NC_000020.10:g.33836121_33836123del, NC_000020.10:g.33836122_33836123del, NC_000020.10:g.33836123del, NC_000020.10:g.33836123dup, NC_000020.10:g.33836122_33836123dup, NC_000020.10:g.33836120_33836123dup, NC_000020.10:g.33836119_33836123dup

Select item 14910356379.

rs1491035637 has merged into rs11474068 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:35253881 (GRCh38)
20:33841684 (GRCh37)
Canonical SPDI:: NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:35253868:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35253881_35253886del, NC_000020.11:g.35253883_35253886del, NC_000020.11:g.35253884_35253886del, NC_000020.11:g.35253885_35253886del, NC_000020.11:g.35253886del, NC_000020.11:g.35253886dup, NC_000020.11:g.35253885_35253886dup, NC_000020.11:g.35253884_35253886dup, NC_000020.11:g.35253883_35253886dup, NC_000020.11:g.35253881_35253886dup, NC_000020.11:g.35253880_35253886dup, NC_000020.11:g.35253879_35253886dup, NC_000020.11:g.35253878_35253886dup, NC_000020.11:g.35253877_35253886dup, NC_000020.11:g.35253876_35253886dup, NC_000020.11:g.35253875_35253886dup, NC_000020.11:g.35253874_35253886dup, NC_000020.11:g.35253873_35253886dup, NC_000020.11:g.35253872_35253886dup, NC_000020.11:g.35253886_35253887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.35253886_35253887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33841684_33841689del, NC_000020.10:g.33841686_33841689del, NC_000020.10:g.33841687_33841689del, NC_000020.10:g.33841688_33841689del, NC_000020.10:g.33841689del, NC_000020.10:g.33841689dup, NC_000020.10:g.33841688_33841689dup, NC_000020.10:g.33841687_33841689dup, NC_000020.10:g.33841686_33841689dup, NC_000020.10:g.33841684_33841689dup, NC_000020.10:g.33841683_33841689dup, NC_000020.10:g.33841682_33841689dup, NC_000020.10:g.33841681_33841689dup, NC_000020.10:g.33841680_33841689dup, NC_000020.10:g.33841679_33841689dup, NC_000020.10:g.33841678_33841689dup, NC_000020.10:g.33841677_33841689dup, NC_000020.10:g.33841676_33841689dup, NC_000020.10:g.33841675_33841689dup, NC_000020.10:g.33841689_33841690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.33841689_33841690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099678110.

rs1490996781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35252494 (GRCh38)
20:33840297 (GRCh37)
Canonical SPDI:: NC_000020.11:35252493:C:T
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.35252494C>T, NC_000020.10:g.33840297C>T

Select item 149098227311.

rs1490982273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:35252784 (GRCh38)
20:33840587 (GRCh37)
Canonical SPDI:: NC_000020.11:35252783:A:G
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00028/5 (TOMMO)
G=0.01611/47 (KOREAN)
HGVS:: NC_000020.11:g.35252784A>G, NC_000020.10:g.33840587A>G

Select item 149090383812.

rs1490903838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:35256265 (GRCh38)
20:33844068 (GRCh37)
Canonical SPDI:: NC_000020.11:35256264:T:A,NC_000020.11:35256264:T:C,NC_000020.11:35256264:T:G
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.35256265T>A, NC_000020.11:g.35256265T>C, NC_000020.11:g.35256265T>G, NC_000020.10:g.33844068T>A, NC_000020.10:g.33844068T>C, NC_000020.10:g.33844068T>G

Select item 149071795813.

rs1490717958 has merged into rs57309455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:35264719 (GRCh38)
20:33852522 (GRCh37)
Canonical SPDI:: NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:35264707:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.35264719_35264738del, NC_000020.11:g.35264720_35264738del, NC_000020.11:g.35264721_35264738del, NC_000020.11:g.35264722_35264738del, NC_000020.11:g.35264723_35264738del, NC_000020.11:g.35264724_35264738del, NC_000020.11:g.35264725_35264738del, NC_000020.11:g.35264726_35264738del, NC_000020.11:g.35264727_35264738del, NC_000020.11:g.35264728_35264738del, NC_000020.11:g.35264729_35264738del, NC_000020.11:g.35264730_35264738del, NC_000020.11:g.35264731_35264738del, NC_000020.11:g.35264732_35264738del, NC_000020.11:g.35264733_35264738del, NC_000020.11:g.35264734_35264738del, NC_000020.11:g.35264735_35264738del, NC_000020.11:g.35264736_35264738del, NC_000020.11:g.35264737_35264738del, NC_000020.11:g.35264738del, NC_000020.11:g.35264738dup, NC_000020.11:g.35264737_35264738dup, NC_000020.11:g.35264736_35264738dup, NC_000020.11:g.35264735_35264738dup, NC_000020.11:g.35264734_35264738dup, NC_000020.11:g.35264733_35264738dup, NC_000020.11:g.35264732_35264738dup, NC_000020.11:g.35264731_35264738dup, NC_000020.11:g.35264730_35264738dup, NC_000020.11:g.35264729_35264738dup, NC_000020.11:g.35264728_35264738dup, NC_000020.11:g.35264727_35264738dup, NC_000020.11:g.35264726_35264738dup, NC_000020.11:g.35264725_35264738dup, NC_000020.11:g.35264724_35264738dup, NC_000020.11:g.35264722_35264738dup, NC_000020.11:g.35264721_35264738dup, NC_000020.11:g.35264720_35264738dup, NC_000020.11:g.35264719_35264738dup, NC_000020.11:g.35264718_35264738dup, NC_000020.11:g.35264708_35264738dup, NC_000020.10:g.33852522_33852541del, NC_000020.10:g.33852523_33852541del, NC_000020.10:g.33852524_33852541del, NC_000020.10:g.33852525_33852541del, NC_000020.10:g.33852526_33852541del, NC_000020.10:g.33852527_33852541del, NC_000020.10:g.33852528_33852541del, NC_000020.10:g.33852529_33852541del, NC_000020.10:g.33852530_33852541del, NC_000020.10:g.33852531_33852541del, NC_000020.10:g.33852532_33852541del, NC_000020.10:g.33852533_33852541del, NC_000020.10:g.33852534_33852541del, NC_000020.10:g.33852535_33852541del, NC_000020.10:g.33852536_33852541del, NC_000020.10:g.33852537_33852541del, NC_000020.10:g.33852538_33852541del, NC_000020.10:g.33852539_33852541del, NC_000020.10:g.33852540_33852541del, NC_000020.10:g.33852541del, NC_000020.10:g.33852541dup, NC_000020.10:g.33852540_33852541dup, NC_000020.10:g.33852539_33852541dup, NC_000020.10:g.33852538_33852541dup, NC_000020.10:g.33852537_33852541dup, NC_000020.10:g.33852536_33852541dup, NC_000020.10:g.33852535_33852541dup, NC_000020.10:g.33852534_33852541dup, NC_000020.10:g.33852533_33852541dup, NC_000020.10:g.33852532_33852541dup, NC_000020.10:g.33852531_33852541dup, NC_000020.10:g.33852530_33852541dup, NC_000020.10:g.33852529_33852541dup, NC_000020.10:g.33852528_33852541dup, NC_000020.10:g.33852527_33852541dup, NC_000020.10:g.33852525_33852541dup, NC_000020.10:g.33852524_33852541dup, NC_000020.10:g.33852523_33852541dup, NC_000020.10:g.33852522_33852541dup, NC_000020.10:g.33852521_33852541dup, NC_000020.10:g.33852511_33852541dup

Select item 149070531314.

rs1490705313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:35255137 (GRCh38)
20:33842940 (GRCh37)
Canonical SPDI:: NC_000020.11:35255136:C:A
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35255137C>A, NC_000020.10:g.33842940C>A

Select item 149064779415.

rs1490647794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:35248063 (GRCh38)
20:33835866 (GRCh37)
Canonical SPDI:: NC_000020.11:35248062:A:G
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35248063A>G, NC_000020.10:g.33835866A>G

Select item 149054405916.

rs1490544059 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TTT [Show Flanks]
Chromosome:: 20:35253867 (GRCh38)
20:33841671 (GRCh37)
Canonical SPDI:: NC_000020.11:35253867::T,NC_000020.11:35253867::TTT
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
TTT=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.35253867_35253868insT, NC_000020.11:g.35253867_35253868insTTT, NC_000020.10:g.33841670_33841671insT, NC_000020.10:g.33841670_33841671insTTT

Select item 149052878217.

rs1490528782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:35264246 (GRCh38)
20:33852049 (GRCh37)
Canonical SPDI:: NC_000020.11:35264245:C:A,NC_000020.11:35264245:C:T
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35264246C>A, NC_000020.11:g.35264246C>T, NC_000020.10:g.33852049C>A, NC_000020.10:g.33852049C>T

Select item 149048734018.

rs1490487340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTGAG>- [Show Flanks]
Chromosome:: 20:35270835 (GRCh38)
20:33858638 (GRCh37)
Canonical SPDI:: NC_000020.11:35270831:GAGTTTGAG:GAG
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35270835_35270840del, NC_000020.10:g.33858638_33858643del

Select item 149048142919.

rs1490481429 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTC [Show Flanks]
Chromosome:: 20:35272263 (GRCh38)
20:33860067 (GRCh37)
Canonical SPDI:: NC_000020.11:35272263:CTCACTC:CTCACTCACTC
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CTCA=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35272267_35272270dup, NC_000020.10:g.33860070_33860073dup

Select item 149045379520.

rs1490453795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:35272457 (GRCh38)
20:33860260 (GRCh37)
Canonical SPDI:: NC_000020.11:35272456:C:G
Gene:: MMP24 (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35272457C>G, NC_000020.10:g.33860260C>G

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