SNP Links for Gene (Select 23268) - SNP

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Select item 14915656661.

rs1491565666 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:99997927 (GRCh38)
10:101757684 (GRCh37)
Canonical SPDI:: NC_000010.11:99997926:CA:
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.99997927_99997928del, NC_000010.10:g.101757684_101757685del

Select item 14915616352.

rs1491561635 has merged into rs71009790 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99935096 (GRCh38)
10:101694853 (GRCh37)
Canonical SPDI:: NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99935087:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNMBP (Varview), DNMBP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.99935096_99935113del, NC_000010.11:g.99935099_99935113del, NC_000010.11:g.99935100_99935113del, NC_000010.11:g.99935101_99935113del, NC_000010.11:g.99935102_99935113del, NC_000010.11:g.99935103_99935113del, NC_000010.11:g.99935104_99935113del, NC_000010.11:g.99935105_99935113del, NC_000010.11:g.99935106_99935113del, NC_000010.11:g.99935107_99935113del, NC_000010.11:g.99935108_99935113del, NC_000010.11:g.99935109_99935113del, NC_000010.11:g.99935110_99935113del, NC_000010.11:g.99935111_99935113del, NC_000010.11:g.99935112_99935113del, NC_000010.11:g.99935113del, NC_000010.11:g.99935113dup, NC_000010.11:g.99935112_99935113dup, NC_000010.11:g.99935111_99935113dup, NC_000010.11:g.99935110_99935113dup, NC_000010.11:g.99935109_99935113dup, NC_000010.11:g.99935108_99935113dup, NC_000010.11:g.99935107_99935113dup, NC_000010.11:g.99935106_99935113dup, NC_000010.11:g.99935105_99935113dup, NC_000010.11:g.99935104_99935113dup, NC_000010.11:g.99935103_99935113dup, NC_000010.11:g.99935102_99935113dup, NC_000010.11:g.99935101_99935113dup, NC_000010.11:g.99935100_99935113dup, NC_000010.11:g.99935099_99935113dup, NC_000010.11:g.99935098_99935113dup, NC_000010.10:g.101694853_101694870del, NC_000010.10:g.101694856_101694870del, NC_000010.10:g.101694857_101694870del, NC_000010.10:g.101694858_101694870del, NC_000010.10:g.101694859_101694870del, NC_000010.10:g.101694860_101694870del, NC_000010.10:g.101694861_101694870del, NC_000010.10:g.101694862_101694870del, NC_000010.10:g.101694863_101694870del, NC_000010.10:g.101694864_101694870del, NC_000010.10:g.101694865_101694870del, NC_000010.10:g.101694866_101694870del, NC_000010.10:g.101694867_101694870del, NC_000010.10:g.101694868_101694870del, NC_000010.10:g.101694869_101694870del, NC_000010.10:g.101694870del, NC_000010.10:g.101694870dup, NC_000010.10:g.101694869_101694870dup, NC_000010.10:g.101694868_101694870dup, NC_000010.10:g.101694867_101694870dup, NC_000010.10:g.101694866_101694870dup, NC_000010.10:g.101694865_101694870dup, NC_000010.10:g.101694864_101694870dup, NC_000010.10:g.101694863_101694870dup, NC_000010.10:g.101694862_101694870dup, NC_000010.10:g.101694861_101694870dup, NC_000010.10:g.101694860_101694870dup, NC_000010.10:g.101694859_101694870dup, NC_000010.10:g.101694858_101694870dup, NC_000010.10:g.101694857_101694870dup, NC_000010.10:g.101694856_101694870dup, NC_000010.10:g.101694855_101694870dup

Select item 14915481173.

rs1491548117 has merged into rs1160861668 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGGG [Show Flanks]
Chromosome:: 10:99967700 (GRCh38)
10:101727457 (GRCh37)
Canonical SPDI:: NC_000010.11:99967698:GGG:G,NC_000010.11:99967698:GGG:GG,NC_000010.11:99967698:GGG:GGGGG
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000531/15 (TOMMO)
-=0.03452/128 (TWINSUK)
-=0.038402/148 (ALSPAC)
-=0.048333/29 (NorthernSweden)
HGVS:: NC_000010.11:g.99967700_99967701del, NC_000010.11:g.99967701del, NC_000010.11:g.99967700_99967701dup, NC_000010.10:g.101727457_101727458del, NC_000010.10:g.101727458del, NC_000010.10:g.101727457_101727458dup

Select item 14915250814.

rs1491525081 [Homo sapiens]

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

Select item 14915171425.

rs1491517142 has merged into rs36026874 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:100000871 (GRCh38)
10:101760628 (GRCh37)
Canonical SPDI:: NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:100000859:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.100000871_100000887del, NC_000010.11:g.100000873_100000887del, NC_000010.11:g.100000874_100000887del, NC_000010.11:g.100000875_100000887del, NC_000010.11:g.100000876_100000887del, NC_000010.11:g.100000877_100000887del, NC_000010.11:g.100000878_100000887del, NC_000010.11:g.100000879_100000887del, NC_000010.11:g.100000880_100000887del, NC_000010.11:g.100000881_100000887del, NC_000010.11:g.100000882_100000887del, NC_000010.11:g.100000883_100000887del, NC_000010.11:g.100000884_100000887del, NC_000010.11:g.100000885_100000887del, NC_000010.11:g.100000886_100000887del, NC_000010.11:g.100000887del, NC_000010.11:g.100000887dup, NC_000010.11:g.100000886_100000887dup, NC_000010.11:g.100000885_100000887dup, NC_000010.11:g.100000884_100000887dup, NC_000010.11:g.100000883_100000887dup, NC_000010.11:g.100000882_100000887dup, NC_000010.11:g.100000881_100000887dup, NC_000010.11:g.100000880_100000887dup, NC_000010.11:g.100000875_100000887dup, NC_000010.10:g.101760628_101760644del, NC_000010.10:g.101760630_101760644del, NC_000010.10:g.101760631_101760644del, NC_000010.10:g.101760632_101760644del, NC_000010.10:g.101760633_101760644del, NC_000010.10:g.101760634_101760644del, NC_000010.10:g.101760635_101760644del, NC_000010.10:g.101760636_101760644del, NC_000010.10:g.101760637_101760644del, NC_000010.10:g.101760638_101760644del, NC_000010.10:g.101760639_101760644del, NC_000010.10:g.101760640_101760644del, NC_000010.10:g.101760641_101760644del, NC_000010.10:g.101760642_101760644del, NC_000010.10:g.101760643_101760644del, NC_000010.10:g.101760644del, NC_000010.10:g.101760644dup, NC_000010.10:g.101760643_101760644dup, NC_000010.10:g.101760642_101760644dup, NC_000010.10:g.101760641_101760644dup, NC_000010.10:g.101760640_101760644dup, NC_000010.10:g.101760639_101760644dup, NC_000010.10:g.101760638_101760644dup, NC_000010.10:g.101760637_101760644dup, NC_000010.10:g.101760632_101760644dup

Select item 14914912706.

rs1491491270 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:99922500 (GRCh38)
10:101682257 (GRCh37)
Canonical SPDI:: NC_000010.11:99922499:CT:
Gene:: DNMBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.99922500_99922501del, NC_000010.10:g.101682257_101682258del

Select item 14914543857.

rs1491454385 has merged into rs71009780 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99879089 (GRCh38)
10:101638846 (GRCh37)
Canonical SPDI:: NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99879084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99879089_99879101del, NC_000010.11:g.99879091_99879101del, NC_000010.11:g.99879092_99879101del, NC_000010.11:g.99879093_99879101del, NC_000010.11:g.99879095_99879101del, NC_000010.11:g.99879096_99879101del, NC_000010.11:g.99879097_99879101del, NC_000010.11:g.99879098_99879101del, NC_000010.11:g.99879099_99879101del, NC_000010.11:g.99879100_99879101del, NC_000010.11:g.99879101del, NC_000010.11:g.99879101dup, NC_000010.11:g.99879100_99879101dup, NC_000010.11:g.99879099_99879101dup, NC_000010.11:g.99879098_99879101dup, NC_000010.11:g.99879097_99879101dup, NC_000010.11:g.99879096_99879101dup, NC_000010.11:g.99879095_99879101dup, NC_000010.11:g.99879094_99879101dup, NC_000010.11:g.99879093_99879101dup, NC_000010.11:g.99879092_99879101dup, NC_000010.11:g.99879091_99879101dup, NC_000010.11:g.99879090_99879101dup, NC_000010.11:g.99879089_99879101dup, NC_000010.11:g.99879088_99879101dup, NC_000010.11:g.99879087_99879101dup, NC_000010.11:g.99879086_99879101dup, NC_000010.11:g.99879085_99879101dup, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.99879101_99879102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638846_101638858del, NC_000010.10:g.101638848_101638858del, NC_000010.10:g.101638849_101638858del, NC_000010.10:g.101638850_101638858del, NC_000010.10:g.101638852_101638858del, NC_000010.10:g.101638853_101638858del, NC_000010.10:g.101638854_101638858del, NC_000010.10:g.101638855_101638858del, NC_000010.10:g.101638856_101638858del, NC_000010.10:g.101638857_101638858del, NC_000010.10:g.101638858del, NC_000010.10:g.101638858dup, NC_000010.10:g.101638857_101638858dup, NC_000010.10:g.101638856_101638858dup, NC_000010.10:g.101638855_101638858dup, NC_000010.10:g.101638854_101638858dup, NC_000010.10:g.101638853_101638858dup, NC_000010.10:g.101638852_101638858dup, NC_000010.10:g.101638851_101638858dup, NC_000010.10:g.101638850_101638858dup, NC_000010.10:g.101638849_101638858dup, NC_000010.10:g.101638848_101638858dup, NC_000010.10:g.101638847_101638858dup, NC_000010.10:g.101638846_101638858dup, NC_000010.10:g.101638845_101638858dup, NC_000010.10:g.101638844_101638858dup, NC_000010.10:g.101638843_101638858dup, NC_000010.10:g.101638842_101638858dup, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101638858_101638859insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914518808.

rs1491451880 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:100008774 (GRCh38)
10:101768531 (GRCh37)
Canonical SPDI:: NC_000010.11:100008772:TAT:T
Gene:: DNMBP (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.100008774_100008775del, NC_000010.10:g.101768531_101768532del, XM_047424910.1:c.-2630_-2629del

Select item 14914313999.

rs1491431399 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:99964136 (GRCh38)
10:101723894 (GRCh37)
Canonical SPDI:: NC_000010.11:99964136::C
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.99964136_99964137insC, NC_000010.10:g.101723893_101723894insC

Select item 149142563510.

rs1491425635 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99879085 (GRCh38)
10:101638843 (GRCh37)
Canonical SPDI:: NC_000010.11:99879085:AAAAAAAAAA:AAAAAAAAAACAAAAAAAAAA
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAACAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.99879086_99879095A[10]CAAAAAAAAAA[1], NC_000010.10:g.101638843_101638852A[10]CAAAAAAAAAA[1]

Select item 149141713911.

rs1491417139 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:99879078 (GRCh38)
10:101638835 (GRCh37)
Canonical SPDI:: NC_000010.11:99879075:CTCT:CT
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000084/1 (ALFA)
-=0.000059/8 (GnomAD)
HGVS:: NC_000010.11:g.99879076CT[1], NC_000010.10:g.101638833CT[1]

Select item 149140144112.

rs1491401441 has merged into rs35399198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT [Show Flanks]
Chromosome:: 10:99973097 (GRCh38)
10:101732854 (GRCh37)
Canonical SPDI:: NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000010.11:99973080:ATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATTTATTTATTTATTT=0./0 (ALFA)
-=0.000321/85 (TOPMED)
ATTT=0.397764/1992 (1000Genomes)
HGVS:: NC_000010.11:g.99973081ATTT[4], NC_000010.11:g.99973081ATTT[5], NC_000010.11:g.99973081ATTT[6], NC_000010.11:g.99973081ATTT[7], NC_000010.11:g.99973081ATTT[9], NC_000010.11:g.99973081ATTT[10], NC_000010.11:g.99973081ATTT[11], NC_000010.11:g.99973081ATTT[12], NC_000010.11:g.99973081ATTT[13], NC_000010.11:g.99973081ATTT[14], NC_000010.11:g.99973081ATTT[15], NC_000010.11:g.99973081ATTT[16], NC_000010.11:g.99973081ATTT[17], NC_000010.10:g.101732838ATTT[4], NC_000010.10:g.101732838ATTT[5], NC_000010.10:g.101732838ATTT[6], NC_000010.10:g.101732838ATTT[7], NC_000010.10:g.101732838ATTT[9], NC_000010.10:g.101732838ATTT[10], NC_000010.10:g.101732838ATTT[11], NC_000010.10:g.101732838ATTT[12], NC_000010.10:g.101732838ATTT[13], NC_000010.10:g.101732838ATTT[14], NC_000010.10:g.101732838ATTT[15], NC_000010.10:g.101732838ATTT[16], NC_000010.10:g.101732838ATTT[17]

Select item 149139351913.

rs1491393519 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC [Show Flanks]
Chromosome:: 10:99935088 (GRCh38)
10:101694846 (GRCh37)
Canonical SPDI:: NC_000010.11:99935088::C,NC_000010.11:99935088::CAC,NC_000010.11:99935088::CACAC
Gene:: DNMBP (Varview), DNMBP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00051/6 (ALFA)
CACAC=0.00037/18 (GnomAD)
HGVS:: NC_000010.11:g.99935088_99935089insC, NC_000010.11:g.99935088_99935089insCAC, NC_000010.11:g.99935088_99935089insCACAC, NC_000010.10:g.101694845_101694846insC, NC_000010.10:g.101694845_101694846insCAC, NC_000010.10:g.101694845_101694846insCACAC

Select item 149137770714.

rs1491377707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:99891617 (GRCh38)
10:101651375 (GRCh37)
Canonical SPDI:: NC_000010.11:99891617:C:CC
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.99891618dup, NC_000010.10:g.101651375dup

Select item 149135623015.

rs1491356230 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:99876404 (GRCh38)
10:101636161 (GRCh37)
Canonical SPDI:: NC_000010.11:99876403:AG:
Gene:: DNMBP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.0043/51 (ALFA)
HGVS:: NC_000010.11:g.99876404_99876405del, NC_000010.10:g.101636161_101636162del, NM_015221.4:c.*746_*747del, NM_015221.3:c.*746_*747del, NM_015221.2:c.*746_*747del, XM_011539559.3:c.*746_*747del, XM_011539559.2:c.*746_*747del, XM_011539559.1:c.*746_*747del, NM_001318326.2:c.*746_*747del, NM_001318326.1:c.*746_*747del, XM_047424910.1:c.*746_*747del, NM_001318327.1:c.*746_*747del

Select item 149134090016.

rs1491340900 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,AGG [Show Flanks]
Chromosome:: 10:99876404 (GRCh38)
10:101636162 (GRCh37)
Canonical SPDI:: NC_000010.11:99876404::AG,NC_000010.11:99876404::AGG
Gene:: DNMBP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGG=0./0 (ALFA)
HGVS:: NC_000010.11:g.99876404_99876405insAG, NC_000010.11:g.99876404_99876405insAGG, NC_000010.10:g.101636161_101636162insAG, NC_000010.10:g.101636161_101636162insAGG, NM_015221.4:c.*746_*747insCT, NM_015221.4:c.*746_*747insCCT, NM_015221.3:c.*746_*747insCT, NM_015221.3:c.*746_*747insCCT, NM_015221.2:c.*746_*747insCT, NM_015221.2:c.*746_*747insCCT, XM_011539559.3:c.*746_*747insCT, XM_011539559.3:c.*746_*747insCCT, XM_011539559.2:c.*746_*747insCT, XM_011539559.2:c.*746_*747insCCT, XM_011539559.1:c.*746_*747insCT, XM_011539559.1:c.*746_*747insCCT, NM_001318326.2:c.*746_*747insCT, NM_001318326.2:c.*746_*747insCCT, NM_001318326.1:c.*746_*747insCT, NM_001318326.1:c.*746_*747insCCT, XM_047424910.1:c.*746_*747insCT, XM_047424910.1:c.*746_*747insCCT, NM_001318327.1:c.*746_*747insCT, NM_001318327.1:c.*746_*747insCCT

Select item 149133313517.

rs1491333135 has merged into rs10654941 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: 10:99915225 (GRCh38)
10:101674982 (GRCh37)
Canonical SPDI:: NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000010.11:99915214:ACACACACACACACACACAC:ACACACACACACACACACACACACACACAC
Gene:: DNMBP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
AC=0.3113/1559 (1000Genomes)
HGVS:: NC_000010.11:g.99915215AC[5], NC_000010.11:g.99915215AC[6], NC_000010.11:g.99915215AC[7], NC_000010.11:g.99915215AC[8], NC_000010.11:g.99915215AC[9], NC_000010.11:g.99915215AC[11], NC_000010.11:g.99915215AC[12], NC_000010.11:g.99915215AC[13], NC_000010.11:g.99915215AC[14], NC_000010.11:g.99915215AC[15], NC_000010.10:g.101674972AC[5], NC_000010.10:g.101674972AC[6], NC_000010.10:g.101674972AC[7], NC_000010.10:g.101674972AC[8], NC_000010.10:g.101674972AC[9], NC_000010.10:g.101674972AC[11], NC_000010.10:g.101674972AC[12], NC_000010.10:g.101674972AC[13], NC_000010.10:g.101674972AC[14], NC_000010.10:g.101674972AC[15]

Select item 149131117618.

rs1491311176 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:99911609 (GRCh38)
10:101671367 (GRCh37)
Canonical SPDI:: NC_000010.11:99911609::A
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.99911609_99911610insA, NC_000010.10:g.101671366_101671367insA

Select item 149127338819.

rs1491273388 has merged into rs71009786 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:99918583 (GRCh38)
10:101678340 (GRCh37)
Canonical SPDI:: NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99918574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNMBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTT=0.0825/413 (1000Genomes)
HGVS:: NC_000010.11:g.99918583_99918586del, NC_000010.11:g.99918584_99918586del, NC_000010.11:g.99918585_99918586del, NC_000010.11:g.99918586del, NC_000010.11:g.99918586dup, NC_000010.11:g.99918585_99918586dup, NC_000010.11:g.99918584_99918586dup, NC_000010.11:g.99918583_99918586dup, NC_000010.11:g.99918582_99918586dup, NC_000010.11:g.99918581_99918586dup, NC_000010.11:g.99918580_99918586dup, NC_000010.11:g.99918579_99918586dup, NC_000010.11:g.99918578_99918586dup, NC_000010.11:g.99918577_99918586dup, NC_000010.11:g.99918576_99918586dup, NC_000010.11:g.99918575_99918586dup, NC_000010.10:g.101678340_101678343del, NC_000010.10:g.101678341_101678343del, NC_000010.10:g.101678342_101678343del, NC_000010.10:g.101678343del, NC_000010.10:g.101678343dup, NC_000010.10:g.101678342_101678343dup, NC_000010.10:g.101678341_101678343dup, NC_000010.10:g.101678340_101678343dup, NC_000010.10:g.101678339_101678343dup, NC_000010.10:g.101678338_101678343dup, NC_000010.10:g.101678337_101678343dup, NC_000010.10:g.101678336_101678343dup, NC_000010.10:g.101678335_101678343dup, NC_000010.10:g.101678334_101678343dup, NC_000010.10:g.101678333_101678343dup, NC_000010.10:g.101678332_101678343dup

Select item 149125408320.

rs1491254083 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTT [Show Flanks]
Chromosome:: 10:99918575 (GRCh38)
10:101678333 (GRCh37)
Canonical SPDI:: NC_000010.11:99918575:TTTTTTT:TTTTTTTCTTTTTTT
Gene:: DNMBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTCTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.99918576_99918582T[7]CTTTTTTT[1], NC_000010.10:g.101678333_101678339T[7]CTTTTTTT[1]

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