SNP Links for Gene (Select 5718) - SNP

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Select item 14915539221.

rs1491553922 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:67358567 (GRCh38)
17:65354683 (GRCh37)
Canonical SPDI:: NC_000017.11:67358566:CA:
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.67358567_67358568del, NC_000017.10:g.65354683_65354684del

Select item 14915302242.

rs1491530224 has merged into rs1159053225 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:67355109 (GRCh38)
17:65351225 (GRCh37)
Canonical SPDI:: NC_000017.11:67355108:GG:G,NC_000017.11:67355108:GG:GGG
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.001612/25 (ALFA)
-=0.000239/4 (TOMMO)
-=0.002849/353 (GnomAD)
-=0.012115/22 (Korea1K)
HGVS:: NC_000017.11:g.67355110del, NC_000017.11:g.67355110dup, NC_000017.10:g.65351226del, NC_000017.10:g.65351226dup

Select item 14915135173.

rs1491513517 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:67355108 (GRCh38)
17:65351224 (GRCh37)
Canonical SPDI:: NC_000017.11:67355107:TG:
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.67355108_67355109del, NC_000017.10:g.65351224_65351225del

Select item 14913978664.

rs1491397866 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912077045.

rs1491207704 has merged into rs398039153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67358574 (GRCh38)
17:65354690 (GRCh37)
Canonical SPDI:: NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.67358574_67358586del, NC_000017.11:g.67358576_67358586del, NC_000017.11:g.67358577_67358586del, NC_000017.11:g.67358578_67358586del, NC_000017.11:g.67358579_67358586del, NC_000017.11:g.67358580_67358586del, NC_000017.11:g.67358581_67358586del, NC_000017.11:g.67358582_67358586del, NC_000017.11:g.67358583_67358586del, NC_000017.11:g.67358584_67358586del, NC_000017.11:g.67358585_67358586del, NC_000017.11:g.67358586del, NC_000017.11:g.67358586dup, NC_000017.11:g.67358585_67358586dup, NC_000017.11:g.67358584_67358586dup, NC_000017.11:g.67358583_67358586dup, NC_000017.11:g.67358582_67358586dup, NC_000017.11:g.67358581_67358586dup, NC_000017.11:g.67358580_67358586dup, NC_000017.11:g.67358579_67358586dup, NC_000017.11:g.67358578_67358586dup, NC_000017.11:g.67358577_67358586dup, NC_000017.11:g.67358576_67358586dup, NC_000017.11:g.67358575_67358586dup, NC_000017.11:g.67358574_67358586dup, NC_000017.11:g.67358573_67358586dup, NC_000017.11:g.67358572_67358586dup, NC_000017.11:g.67358571_67358586dup, NC_000017.11:g.67358570_67358586dup, NC_000017.11:g.67358569_67358586dup, NC_000017.11:g.67358568_67358586dup, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358568_67358586A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[19]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354690_65354702del, NC_000017.10:g.65354692_65354702del, NC_000017.10:g.65354693_65354702del, NC_000017.10:g.65354694_65354702del, NC_000017.10:g.65354695_65354702del, NC_000017.10:g.65354696_65354702del, NC_000017.10:g.65354697_65354702del, NC_000017.10:g.65354698_65354702del, NC_000017.10:g.65354699_65354702del, NC_000017.10:g.65354700_65354702del, NC_000017.10:g.65354701_65354702del, NC_000017.10:g.65354702del, NC_000017.10:g.65354702dup, NC_000017.10:g.65354701_65354702dup, NC_000017.10:g.65354700_65354702dup, NC_000017.10:g.65354699_65354702dup, NC_000017.10:g.65354698_65354702dup, NC_000017.10:g.65354697_65354702dup, NC_000017.10:g.65354696_65354702dup, NC_000017.10:g.65354695_65354702dup, NC_000017.10:g.65354694_65354702dup, NC_000017.10:g.65354693_65354702dup, NC_000017.10:g.65354692_65354702dup, NC_000017.10:g.65354691_65354702dup, NC_000017.10:g.65354690_65354702dup, NC_000017.10:g.65354689_65354702dup, NC_000017.10:g.65354688_65354702dup, NC_000017.10:g.65354687_65354702dup, NC_000017.10:g.65354686_65354702dup, NC_000017.10:g.65354685_65354702dup, NC_000017.10:g.65354684_65354702dup, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354684_65354702A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[19]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910360556.

rs1491036055 has merged into rs398039153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67358574 (GRCh38)
17:65354690 (GRCh37)
Canonical SPDI:: NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67358567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.67358574_67358586del, NC_000017.11:g.67358576_67358586del, NC_000017.11:g.67358577_67358586del, NC_000017.11:g.67358578_67358586del, NC_000017.11:g.67358579_67358586del, NC_000017.11:g.67358580_67358586del, NC_000017.11:g.67358581_67358586del, NC_000017.11:g.67358582_67358586del, NC_000017.11:g.67358583_67358586del, NC_000017.11:g.67358584_67358586del, NC_000017.11:g.67358585_67358586del, NC_000017.11:g.67358586del, NC_000017.11:g.67358586dup, NC_000017.11:g.67358585_67358586dup, NC_000017.11:g.67358584_67358586dup, NC_000017.11:g.67358583_67358586dup, NC_000017.11:g.67358582_67358586dup, NC_000017.11:g.67358581_67358586dup, NC_000017.11:g.67358580_67358586dup, NC_000017.11:g.67358579_67358586dup, NC_000017.11:g.67358578_67358586dup, NC_000017.11:g.67358577_67358586dup, NC_000017.11:g.67358576_67358586dup, NC_000017.11:g.67358575_67358586dup, NC_000017.11:g.67358574_67358586dup, NC_000017.11:g.67358573_67358586dup, NC_000017.11:g.67358572_67358586dup, NC_000017.11:g.67358571_67358586dup, NC_000017.11:g.67358570_67358586dup, NC_000017.11:g.67358569_67358586dup, NC_000017.11:g.67358568_67358586dup, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358586_67358587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67358568_67358586A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.67358568_67358586A[19]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354690_65354702del, NC_000017.10:g.65354692_65354702del, NC_000017.10:g.65354693_65354702del, NC_000017.10:g.65354694_65354702del, NC_000017.10:g.65354695_65354702del, NC_000017.10:g.65354696_65354702del, NC_000017.10:g.65354697_65354702del, NC_000017.10:g.65354698_65354702del, NC_000017.10:g.65354699_65354702del, NC_000017.10:g.65354700_65354702del, NC_000017.10:g.65354701_65354702del, NC_000017.10:g.65354702del, NC_000017.10:g.65354702dup, NC_000017.10:g.65354701_65354702dup, NC_000017.10:g.65354700_65354702dup, NC_000017.10:g.65354699_65354702dup, NC_000017.10:g.65354698_65354702dup, NC_000017.10:g.65354697_65354702dup, NC_000017.10:g.65354696_65354702dup, NC_000017.10:g.65354695_65354702dup, NC_000017.10:g.65354694_65354702dup, NC_000017.10:g.65354693_65354702dup, NC_000017.10:g.65354692_65354702dup, NC_000017.10:g.65354691_65354702dup, NC_000017.10:g.65354690_65354702dup, NC_000017.10:g.65354689_65354702dup, NC_000017.10:g.65354688_65354702dup, NC_000017.10:g.65354687_65354702dup, NC_000017.10:g.65354686_65354702dup, NC_000017.10:g.65354685_65354702dup, NC_000017.10:g.65354684_65354702dup, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354702_65354703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65354684_65354702A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65354684_65354702A[19]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910131597.

rs1491013159 has merged into rs34639826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67340099 (GRCh38)
17:65336215 (GRCh37)
Canonical SPDI:: NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMD12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000017.11:g.67340099_67340111del, NC_000017.11:g.67340100_67340111del, NC_000017.11:g.67340103_67340111del, NC_000017.11:g.67340105_67340111del, NC_000017.11:g.67340106_67340111del, NC_000017.11:g.67340107_67340111del, NC_000017.11:g.67340108_67340111del, NC_000017.11:g.67340109_67340111del, NC_000017.11:g.67340110_67340111del, NC_000017.11:g.67340111del, NC_000017.11:g.67340111dup, NC_000017.11:g.67340110_67340111dup, NC_000017.11:g.67340109_67340111dup, NC_000017.11:g.67340108_67340111dup, NC_000017.11:g.67340107_67340111dup, NC_000017.11:g.67340106_67340111dup, NC_000017.11:g.67340102_67340111dup, NC_000017.11:g.67340111_67340112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67340111_67340112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67340091_67340111A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65336215_65336227del, NC_000017.10:g.65336216_65336227del, NC_000017.10:g.65336219_65336227del, NC_000017.10:g.65336221_65336227del, NC_000017.10:g.65336222_65336227del, NC_000017.10:g.65336223_65336227del, NC_000017.10:g.65336224_65336227del, NC_000017.10:g.65336225_65336227del, NC_000017.10:g.65336226_65336227del, NC_000017.10:g.65336227del, NC_000017.10:g.65336227dup, NC_000017.10:g.65336226_65336227dup, NC_000017.10:g.65336225_65336227dup, NC_000017.10:g.65336224_65336227dup, NC_000017.10:g.65336223_65336227dup, NC_000017.10:g.65336222_65336227dup, NC_000017.10:g.65336218_65336227dup, NC_000017.10:g.65336227_65336228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65336227_65336228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65336207_65336227A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002816.5:c.*740_*752del, NM_002816.5:c.*741_*752del, NM_002816.5:c.*744_*752del, NM_002816.5:c.*746_*752del, NM_002816.5:c.*747_*752del, NM_002816.5:c.*748_*752del, NM_002816.5:c.*749_*752del, NM_002816.5:c.*750_*752del, NM_002816.5:c.*751_*752del, NM_002816.5:c.*752del, NM_002816.5:c.*752dup, NM_002816.5:c.*751_*752dup, NM_002816.5:c.*750_*752dup, NM_002816.5:c.*749_*752dup, NM_002816.5:c.*748_*752dup, NM_002816.5:c.*747_*752dup, NM_002816.5:c.*743_*752dup, NM_002816.5:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.5:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.5:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_002816.4:c.*740_*752del, NM_002816.4:c.*741_*752del, NM_002816.4:c.*744_*752del, NM_002816.4:c.*746_*752del, NM_002816.4:c.*747_*752del, NM_002816.4:c.*748_*752del, NM_002816.4:c.*749_*752del, NM_002816.4:c.*750_*752del, NM_002816.4:c.*751_*752del, NM_002816.4:c.*752del, NM_002816.4:c.*752dup, NM_002816.4:c.*751_*752dup, NM_002816.4:c.*750_*752dup, NM_002816.4:c.*749_*752dup, NM_002816.4:c.*748_*752dup, NM_002816.4:c.*747_*752dup, NM_002816.4:c.*743_*752dup, NM_002816.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.4:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_174871.4:c.*740_*752del, NM_174871.4:c.*741_*752del, NM_174871.4:c.*744_*752del, NM_174871.4:c.*746_*752del, NM_174871.4:c.*747_*752del, NM_174871.4:c.*748_*752del, NM_174871.4:c.*749_*752del, NM_174871.4:c.*750_*752del, NM_174871.4:c.*751_*752del, NM_174871.4:c.*752del, NM_174871.4:c.*752dup, NM_174871.4:c.*751_*752dup, NM_174871.4:c.*750_*752dup, NM_174871.4:c.*749_*752dup, NM_174871.4:c.*748_*752dup, NM_174871.4:c.*747_*752dup, NM_174871.4:c.*743_*752dup, NM_174871.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.4:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_174871.3:c.*740_*752del, NM_174871.3:c.*741_*752del, NM_174871.3:c.*744_*752del, NM_174871.3:c.*746_*752del, NM_174871.3:c.*747_*752del, NM_174871.3:c.*748_*752del, NM_174871.3:c.*749_*752del, NM_174871.3:c.*750_*752del, NM_174871.3:c.*751_*752del, NM_174871.3:c.*752del, NM_174871.3:c.*752dup, NM_174871.3:c.*751_*752dup, NM_174871.3:c.*750_*752dup, NM_174871.3:c.*749_*752dup, NM_174871.3:c.*748_*752dup, NM_174871.3:c.*747_*752dup, NM_174871.3:c.*743_*752dup, NM_174871.3:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.3:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.3:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001316341.2:c.*740_*752del, NM_001316341.2:c.*741_*752del, NM_001316341.2:c.*744_*752del, NM_001316341.2:c.*746_*752del, NM_001316341.2:c.*747_*752del, NM_001316341.2:c.*748_*752del, NM_001316341.2:c.*749_*752del, NM_001316341.2:c.*750_*752del, NM_001316341.2:c.*751_*752del, NM_001316341.2:c.*752del, NM_001316341.2:c.*752dup, NM_001316341.2:c.*751_*752dup, NM_001316341.2:c.*750_*752dup, NM_001316341.2:c.*749_*752dup, NM_001316341.2:c.*748_*752dup, NM_001316341.2:c.*747_*752dup, NM_001316341.2:c.*743_*752dup, NM_001316341.2:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.2:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.2:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001316341.1:c.*740_*752del, NM_001316341.1:c.*741_*752del, NM_001316341.1:c.*744_*752del, NM_001316341.1:c.*746_*752del, NM_001316341.1:c.*747_*752del, NM_001316341.1:c.*748_*752del, NM_001316341.1:c.*749_*752del, NM_001316341.1:c.*750_*752del, NM_001316341.1:c.*751_*752del, NM_001316341.1:c.*752del, NM_001316341.1:c.*752dup, NM_001316341.1:c.*751_*752dup, NM_001316341.1:c.*750_*752dup, NM_001316341.1:c.*749_*752dup, NM_001316341.1:c.*748_*752dup, NM_001316341.1:c.*747_*752dup, NM_001316341.1:c.*743_*752dup, NM_001316341.1:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.1:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.1:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909750838.

rs1490975083 has merged into rs34639826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67340099 (GRCh38)
17:65336215 (GRCh37)
Canonical SPDI:: NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67340090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMD12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000017.11:g.67340099_67340111del, NC_000017.11:g.67340100_67340111del, NC_000017.11:g.67340103_67340111del, NC_000017.11:g.67340105_67340111del, NC_000017.11:g.67340106_67340111del, NC_000017.11:g.67340107_67340111del, NC_000017.11:g.67340108_67340111del, NC_000017.11:g.67340109_67340111del, NC_000017.11:g.67340110_67340111del, NC_000017.11:g.67340111del, NC_000017.11:g.67340111dup, NC_000017.11:g.67340110_67340111dup, NC_000017.11:g.67340109_67340111dup, NC_000017.11:g.67340108_67340111dup, NC_000017.11:g.67340107_67340111dup, NC_000017.11:g.67340106_67340111dup, NC_000017.11:g.67340102_67340111dup, NC_000017.11:g.67340111_67340112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67340111_67340112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.67340091_67340111A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.65336215_65336227del, NC_000017.10:g.65336216_65336227del, NC_000017.10:g.65336219_65336227del, NC_000017.10:g.65336221_65336227del, NC_000017.10:g.65336222_65336227del, NC_000017.10:g.65336223_65336227del, NC_000017.10:g.65336224_65336227del, NC_000017.10:g.65336225_65336227del, NC_000017.10:g.65336226_65336227del, NC_000017.10:g.65336227del, NC_000017.10:g.65336227dup, NC_000017.10:g.65336226_65336227dup, NC_000017.10:g.65336225_65336227dup, NC_000017.10:g.65336224_65336227dup, NC_000017.10:g.65336223_65336227dup, NC_000017.10:g.65336222_65336227dup, NC_000017.10:g.65336218_65336227dup, NC_000017.10:g.65336227_65336228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65336227_65336228insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.65336207_65336227A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_002816.5:c.*740_*752del, NM_002816.5:c.*741_*752del, NM_002816.5:c.*744_*752del, NM_002816.5:c.*746_*752del, NM_002816.5:c.*747_*752del, NM_002816.5:c.*748_*752del, NM_002816.5:c.*749_*752del, NM_002816.5:c.*750_*752del, NM_002816.5:c.*751_*752del, NM_002816.5:c.*752del, NM_002816.5:c.*752dup, NM_002816.5:c.*751_*752dup, NM_002816.5:c.*750_*752dup, NM_002816.5:c.*749_*752dup, NM_002816.5:c.*748_*752dup, NM_002816.5:c.*747_*752dup, NM_002816.5:c.*743_*752dup, NM_002816.5:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.5:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.5:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_002816.4:c.*740_*752del, NM_002816.4:c.*741_*752del, NM_002816.4:c.*744_*752del, NM_002816.4:c.*746_*752del, NM_002816.4:c.*747_*752del, NM_002816.4:c.*748_*752del, NM_002816.4:c.*749_*752del, NM_002816.4:c.*750_*752del, NM_002816.4:c.*751_*752del, NM_002816.4:c.*752del, NM_002816.4:c.*752dup, NM_002816.4:c.*751_*752dup, NM_002816.4:c.*750_*752dup, NM_002816.4:c.*749_*752dup, NM_002816.4:c.*748_*752dup, NM_002816.4:c.*747_*752dup, NM_002816.4:c.*743_*752dup, NM_002816.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002816.4:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_174871.4:c.*740_*752del, NM_174871.4:c.*741_*752del, NM_174871.4:c.*744_*752del, NM_174871.4:c.*746_*752del, NM_174871.4:c.*747_*752del, NM_174871.4:c.*748_*752del, NM_174871.4:c.*749_*752del, NM_174871.4:c.*750_*752del, NM_174871.4:c.*751_*752del, NM_174871.4:c.*752del, NM_174871.4:c.*752dup, NM_174871.4:c.*751_*752dup, NM_174871.4:c.*750_*752dup, NM_174871.4:c.*749_*752dup, NM_174871.4:c.*748_*752dup, NM_174871.4:c.*747_*752dup, NM_174871.4:c.*743_*752dup, NM_174871.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.4:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.4:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_174871.3:c.*740_*752del, NM_174871.3:c.*741_*752del, NM_174871.3:c.*744_*752del, NM_174871.3:c.*746_*752del, NM_174871.3:c.*747_*752del, NM_174871.3:c.*748_*752del, NM_174871.3:c.*749_*752del, NM_174871.3:c.*750_*752del, NM_174871.3:c.*751_*752del, NM_174871.3:c.*752del, NM_174871.3:c.*752dup, NM_174871.3:c.*751_*752dup, NM_174871.3:c.*750_*752dup, NM_174871.3:c.*749_*752dup, NM_174871.3:c.*748_*752dup, NM_174871.3:c.*747_*752dup, NM_174871.3:c.*743_*752dup, NM_174871.3:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.3:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_174871.3:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001316341.2:c.*740_*752del, NM_001316341.2:c.*741_*752del, NM_001316341.2:c.*744_*752del, NM_001316341.2:c.*746_*752del, NM_001316341.2:c.*747_*752del, NM_001316341.2:c.*748_*752del, NM_001316341.2:c.*749_*752del, NM_001316341.2:c.*750_*752del, NM_001316341.2:c.*751_*752del, NM_001316341.2:c.*752del, NM_001316341.2:c.*752dup, NM_001316341.2:c.*751_*752dup, NM_001316341.2:c.*750_*752dup, NM_001316341.2:c.*749_*752dup, NM_001316341.2:c.*748_*752dup, NM_001316341.2:c.*747_*752dup, NM_001316341.2:c.*743_*752dup, NM_001316341.2:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.2:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.2:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001316341.1:c.*740_*752del, NM_001316341.1:c.*741_*752del, NM_001316341.1:c.*744_*752del, NM_001316341.1:c.*746_*752del, NM_001316341.1:c.*747_*752del, NM_001316341.1:c.*748_*752del, NM_001316341.1:c.*749_*752del, NM_001316341.1:c.*750_*752del, NM_001316341.1:c.*751_*752del, NM_001316341.1:c.*752del, NM_001316341.1:c.*752dup, NM_001316341.1:c.*751_*752dup, NM_001316341.1:c.*750_*752dup, NM_001316341.1:c.*749_*752dup, NM_001316341.1:c.*748_*752dup, NM_001316341.1:c.*747_*752dup, NM_001316341.1:c.*743_*752dup, NM_001316341.1:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.1:c.*752_*753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001316341.1:c.*732_*752T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909111129.

rs1490911112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67340973 (GRCh38)
17:65337089 (GRCh37)
Canonical SPDI:: NC_000017.11:67340972:T:C
Gene:: PSMD12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.67340973T>C, NC_000017.10:g.65337089T>C, NM_002816.5:c.1241A>G, NM_002816.4:c.1241A>G, NM_002816.3:c.1241A>G, NM_174871.4:c.1181A>G, NM_174871.3:c.1181A>G, NM_174871.2:c.1181A>G, NM_001316341.2:c.1064A>G, NM_001316341.1:c.1064A>G, NP_002807.1:p.Asn414Ser, NP_777360.1:p.Asn394Ser, NP_001303270.1:p.Asn355Ser

Select item 149073363410.

rs1490733634 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:67362694 (GRCh38)
17:65358811 (GRCh37)
Canonical SPDI:: NC_000017.11:67362694::C
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.00011/2 (TOMMO)
C=0.002186/14 (1000Genomes)
C=0.002538/330 (GnomAD)
HGVS:: NC_000017.11:g.67362694_67362695insC, NC_000017.10:g.65358810_65358811insC

Select item 149069264511.

rs1490692645 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:67348388 (GRCh38)
17:65344505 (GRCh37)
Canonical SPDI:: NC_000017.11:67348388:TTTT:TTTTT
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.67348392dup, NC_000017.10:g.65344508dup

Select item 149058838812.

rs1490588388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:67350246 (GRCh38)
17:65346362 (GRCh37)
Canonical SPDI:: NC_000017.11:67350245:T:C
Gene:: PSMD12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.67350246T>C, NC_000017.10:g.65346362T>C, NM_002816.5:c.388A>G, NM_002816.4:c.388A>G, NM_002816.3:c.388A>G, NM_174871.4:c.328A>G, NM_174871.3:c.328A>G, NM_174871.2:c.328A>G, NM_001316341.2:c.211A>G, NM_001316341.1:c.211A>G, XM_047436440.1:c.388A>G, NP_002807.1:p.Met130Val, NP_777360.1:p.Met110Val, NP_001303270.1:p.Met71Val, XP_047292396.1:p.Met130Val

Select item 149054423213.

rs1490544232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:67366325 (GRCh38)
17:65362441 (GRCh37)
Canonical SPDI:: NC_000017.11:67366324:A:G
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.67366325A>G, NC_000017.10:g.65362441A>G

Select item 149048268714.

rs1490482687 has merged into rs530989643 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:67361884 (GRCh38)
17:65358000 (GRCh37)
Canonical SPDI:: NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:67361873:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0.0034/2 (NorthernSweden)
AAAAAAA=0.4657/2332 (1000Genomes)
HGVS:: NC_000017.11:g.67361884_67361909del, NC_000017.11:g.67361885_67361909del, NC_000017.11:g.67361886_67361909del, NC_000017.11:g.67361887_67361909del, NC_000017.11:g.67361888_67361909del, NC_000017.11:g.67361889_67361909del, NC_000017.11:g.67361890_67361909del, NC_000017.11:g.67361891_67361909del, NC_000017.11:g.67361892_67361909del, NC_000017.11:g.67361893_67361909del, NC_000017.11:g.67361894_67361909del, NC_000017.11:g.67361895_67361909del, NC_000017.11:g.67361896_67361909del, NC_000017.11:g.67361897_67361909del, NC_000017.11:g.67361898_67361909del, NC_000017.11:g.67361899_67361909del, NC_000017.11:g.67361900_67361909del, NC_000017.11:g.67361901_67361909del, NC_000017.11:g.67361902_67361909del, NC_000017.11:g.67361903_67361909del, NC_000017.11:g.67361904_67361909del, NC_000017.11:g.67361905_67361909del, NC_000017.11:g.67361906_67361909del, NC_000017.11:g.67361907_67361909del, NC_000017.11:g.67361908_67361909del, NC_000017.11:g.67361909del, NC_000017.11:g.67361909dup, NC_000017.11:g.67361908_67361909dup, NC_000017.11:g.67361907_67361909dup, NC_000017.11:g.67361906_67361909dup, NC_000017.11:g.67361905_67361909dup, NC_000017.11:g.67361904_67361909dup, NC_000017.11:g.67361903_67361909dup, NC_000017.11:g.67361902_67361909dup, NC_000017.11:g.67361901_67361909dup, NC_000017.11:g.67361900_67361909dup, NC_000017.11:g.67361899_67361909dup, NC_000017.11:g.67361896_67361909dup, NC_000017.10:g.65358000_65358025del, NC_000017.10:g.65358001_65358025del, NC_000017.10:g.65358002_65358025del, NC_000017.10:g.65358003_65358025del, NC_000017.10:g.65358004_65358025del, NC_000017.10:g.65358005_65358025del, NC_000017.10:g.65358006_65358025del, NC_000017.10:g.65358007_65358025del, NC_000017.10:g.65358008_65358025del, NC_000017.10:g.65358009_65358025del, NC_000017.10:g.65358010_65358025del, NC_000017.10:g.65358011_65358025del, NC_000017.10:g.65358012_65358025del, NC_000017.10:g.65358013_65358025del, NC_000017.10:g.65358014_65358025del, NC_000017.10:g.65358015_65358025del, NC_000017.10:g.65358016_65358025del, NC_000017.10:g.65358017_65358025del, NC_000017.10:g.65358018_65358025del, NC_000017.10:g.65358019_65358025del, NC_000017.10:g.65358020_65358025del, NC_000017.10:g.65358021_65358025del, NC_000017.10:g.65358022_65358025del, NC_000017.10:g.65358023_65358025del, NC_000017.10:g.65358024_65358025del, NC_000017.10:g.65358025del, NC_000017.10:g.65358025dup, NC_000017.10:g.65358024_65358025dup, NC_000017.10:g.65358023_65358025dup, NC_000017.10:g.65358022_65358025dup, NC_000017.10:g.65358021_65358025dup, NC_000017.10:g.65358020_65358025dup, NC_000017.10:g.65358019_65358025dup, NC_000017.10:g.65358018_65358025dup, NC_000017.10:g.65358017_65358025dup, NC_000017.10:g.65358016_65358025dup, NC_000017.10:g.65358015_65358025dup, NC_000017.10:g.65358012_65358025dup

Select item 149047594915.

rs1490475949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:67366550 (GRCh38)
17:65362666 (GRCh37)
Canonical SPDI:: NC_000017.11:67366549:C:A
Gene:: PSMD12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67366550C>A, NC_000017.10:g.65362666C>A, NM_002816.5:c.-31G>T, NM_002816.4:c.-31G>T, NM_002816.3:c.-31G>T, NM_174871.4:c.-31G>T, NM_174871.3:c.-31G>T, NM_174871.2:c.-31G>T, NM_001316341.2:c.-492G>T, NM_001316341.1:c.-492G>T, XM_047436440.1:c.-31G>T

Select item 149043111516.

rs1490431115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67362499 (GRCh38)
17:65358615 (GRCh37)
Canonical SPDI:: NC_000017.11:67362498:C:T
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.67362499C>T, NC_000017.10:g.65358615C>T

Select item 149016380817.

rs1490163808 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:67339714 (GRCh38)
17:65335831 (GRCh37)
Canonical SPDI:: NC_000017.11:67339714:TTTT:TTTTT
Gene:: PSMD12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67339718dup, NC_000017.10:g.65335834dup, NM_002816.5:c.*1128dup, NM_002816.4:c.*1128dup, NM_174871.4:c.*1128dup, NM_174871.3:c.*1128dup, NM_001316341.2:c.*1128dup, NM_001316341.1:c.*1128dup

Select item 149013626418.

rs1490136264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67354376 (GRCh38)
17:65350492 (GRCh37)
Canonical SPDI:: NC_000017.11:67354375:C:T
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.67354376C>T, NC_000017.10:g.65350492C>T

Select item 149003166319.

rs1490031663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67368583 (GRCh38)
17:65364699 (GRCh37)
Canonical SPDI:: NC_000017.11:67368582:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67368583C>T, NC_000017.10:g.65364699C>T

Select item 149001204020.

rs1490012040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:67350930 (GRCh38)
17:65347046 (GRCh37)
Canonical SPDI:: NC_000017.11:67350929:C:T
Gene:: PSMD12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.67350930C>T, NC_000017.10:g.65347046C>T

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