Links from Gene
Items: 1 to 20 of 1000
1.
rs1491493479 has merged into rs57340449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138081234
(GRCh38)
5:137416923
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138081225:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.138081234_138081242del, NC_000005.10:g.138081237_138081242del, NC_000005.10:g.138081238_138081242del, NC_000005.10:g.138081239_138081242del, NC_000005.10:g.138081240_138081242del, NC_000005.10:g.138081241_138081242del, NC_000005.10:g.138081242del, NC_000005.10:g.138081242dup, NC_000005.9:g.137416923_137416931del, NC_000005.9:g.137416926_137416931del, NC_000005.9:g.137416927_137416931del, NC_000005.9:g.137416928_137416931del, NC_000005.9:g.137416929_137416931del, NC_000005.9:g.137416930_137416931del, NC_000005.9:g.137416931del, NC_000005.9:g.137416931dup
2.
rs1491486488 has merged into rs5871664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138083294
(GRCh38)
5:137418983
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138083282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0031/12
(ALSPAC)
A=0.0059/22
(TWINSUK)
A=0.125/5
(GENOME_DK)
A=0.1815/94
(NorthernSweden)
- HGVS:
NC_000005.10:g.138083294_138083298del, NC_000005.10:g.138083295_138083298del, NC_000005.10:g.138083296_138083298del, NC_000005.10:g.138083297_138083298del, NC_000005.10:g.138083298del, NC_000005.10:g.138083298dup, NC_000005.10:g.138083294_138083298dup, NC_000005.10:g.138083292_138083298dup, NC_000005.9:g.137418983_137418987del, NC_000005.9:g.137418984_137418987del, NC_000005.9:g.137418985_137418987del, NC_000005.9:g.137418986_137418987del, NC_000005.9:g.137418987del, NC_000005.9:g.137418987dup, NC_000005.9:g.137418983_137418987dup, NC_000005.9:g.137418981_137418987dup
3.
rs1491457391 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:138087649
(GRCh38)
5:137423338
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138087648:CA:
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00438/52
(
ALFA)
-=0.00251/65
(TOMMO)
- HGVS:
4.
rs1491456343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:138087675
(GRCh38)
5:137423364
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138087673:AGA:A
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.008009/95
(
ALFA)
-=0.000071/1
(TOMMO)
-=0.013006/1710
(GnomAD)
- HGVS:
5.
rs1491431503 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:138081225
(GRCh38)
5:137416914
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138081224:CA:
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.03937/467
(
ALFA)
-=0.00106/30
(TOMMO)
-=0.00502/9
(Korea1K)
- HGVS:
6.
rs1491248570 has merged into rs371833243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:138080453
(GRCh38)
5:137416142
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138080444:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TTTTTTTTTT=0./0
(GENOME_DK)
-=0.2166/803
(TWINSUK)
-=0.2185/842
(ALSPAC)
- HGVS:
NC_000005.10:g.138080453_138080468del, NC_000005.10:g.138080454_138080468del, NC_000005.10:g.138080455_138080468del, NC_000005.10:g.138080456_138080468del, NC_000005.10:g.138080457_138080468del, NC_000005.10:g.138080458_138080468del, NC_000005.10:g.138080459_138080468del, NC_000005.10:g.138080460_138080468del, NC_000005.10:g.138080461_138080468del, NC_000005.10:g.138080462_138080468del, NC_000005.10:g.138080463_138080468del, NC_000005.10:g.138080464_138080468del, NC_000005.10:g.138080465_138080468del, NC_000005.10:g.138080466_138080468del, NC_000005.10:g.138080467_138080468del, NC_000005.10:g.138080468del, NC_000005.10:g.138080468dup, NC_000005.10:g.138080467_138080468dup, NC_000005.10:g.138080466_138080468dup, NC_000005.10:g.138080465_138080468dup, NC_000005.10:g.138080464_138080468dup, NC_000005.10:g.138080463_138080468dup, NC_000005.10:g.138080462_138080468dup, NC_000005.10:g.138080461_138080468dup, NC_000005.10:g.138080460_138080468dup, NC_000005.10:g.138080445_138080468T[33]GTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.138080459_138080468dup, NC_000005.10:g.138080445_138080468T[34]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.138080458_138080468dup, NC_000005.10:g.138080445_138080468T[35]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.138080457_138080468dup, NC_000005.10:g.138080456_138080468dup, NC_000005.10:g.138080455_138080468dup, NC_000005.10:g.138080454_138080468dup, NC_000005.10:g.138080445_138080468T[39]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.138080453_138080468dup, NC_000005.10:g.138080450_138080468dup, NC_000005.10:g.138080449_138080468dup, NC_000005.10:g.138080448_138080468dup, NC_000005.10:g.138080447_138080468dup, NC_000005.10:g.138080445_138080468dup, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.138080468_138080469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416142_137416157del, NC_000005.9:g.137416143_137416157del, NC_000005.9:g.137416144_137416157del, NC_000005.9:g.137416145_137416157del, NC_000005.9:g.137416146_137416157del, NC_000005.9:g.137416147_137416157del, NC_000005.9:g.137416148_137416157del, NC_000005.9:g.137416149_137416157del, NC_000005.9:g.137416150_137416157del, NC_000005.9:g.137416151_137416157del, NC_000005.9:g.137416152_137416157del, NC_000005.9:g.137416153_137416157del, NC_000005.9:g.137416154_137416157del, NC_000005.9:g.137416155_137416157del, NC_000005.9:g.137416156_137416157del, NC_000005.9:g.137416157del, NC_000005.9:g.137416157dup, NC_000005.9:g.137416156_137416157dup, NC_000005.9:g.137416155_137416157dup, NC_000005.9:g.137416154_137416157dup, NC_000005.9:g.137416153_137416157dup, NC_000005.9:g.137416152_137416157dup, NC_000005.9:g.137416151_137416157dup, NC_000005.9:g.137416150_137416157dup, NC_000005.9:g.137416149_137416157dup, NC_000005.9:g.137416134_137416157T[33]GTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.137416148_137416157dup, NC_000005.9:g.137416134_137416157T[34]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.137416147_137416157dup, NC_000005.9:g.137416134_137416157T[35]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.137416146_137416157dup, NC_000005.9:g.137416145_137416157dup, NC_000005.9:g.137416144_137416157dup, NC_000005.9:g.137416143_137416157dup, NC_000005.9:g.137416134_137416157T[39]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.137416142_137416157dup, NC_000005.9:g.137416139_137416157dup, NC_000005.9:g.137416138_137416157dup, NC_000005.9:g.137416137_137416157dup, NC_000005.9:g.137416136_137416157dup, NC_000005.9:g.137416134_137416157dup, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.137416157_137416158insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491225168 has merged into rs66902804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:138087660
(GRCh38)
5:137423349
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:138087649:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AA=0.4443/2225
(1000Genomes)
- HGVS:
NC_000005.10:g.138087660_138087674del, NC_000005.10:g.138087661_138087674del, NC_000005.10:g.138087662_138087674del, NC_000005.10:g.138087663_138087674del, NC_000005.10:g.138087664_138087674del, NC_000005.10:g.138087665_138087674del, NC_000005.10:g.138087666_138087674del, NC_000005.10:g.138087667_138087674del, NC_000005.10:g.138087668_138087674del, NC_000005.10:g.138087669_138087674del, NC_000005.10:g.138087670_138087674del, NC_000005.10:g.138087671_138087674del, NC_000005.10:g.138087672_138087674del, NC_000005.10:g.138087673_138087674del, NC_000005.10:g.138087674del, NC_000005.10:g.138087674dup, NC_000005.10:g.138087673_138087674dup, NC_000005.10:g.138087672_138087674dup, NC_000005.10:g.138087671_138087674dup, NC_000005.10:g.138087670_138087674dup, NC_000005.10:g.138087669_138087674dup, NC_000005.10:g.138087668_138087674dup, NC_000005.10:g.138087667_138087674dup, NC_000005.10:g.138087666_138087674dup, NC_000005.10:g.138087665_138087674dup, NC_000005.10:g.138087664_138087674dup, NC_000005.10:g.138087674_138087675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.137423349_137423363del, NC_000005.9:g.137423350_137423363del, NC_000005.9:g.137423351_137423363del, NC_000005.9:g.137423352_137423363del, NC_000005.9:g.137423353_137423363del, NC_000005.9:g.137423354_137423363del, NC_000005.9:g.137423355_137423363del, NC_000005.9:g.137423356_137423363del, NC_000005.9:g.137423357_137423363del, NC_000005.9:g.137423358_137423363del, NC_000005.9:g.137423359_137423363del, NC_000005.9:g.137423360_137423363del, NC_000005.9:g.137423361_137423363del, NC_000005.9:g.137423362_137423363del, NC_000005.9:g.137423363del, NC_000005.9:g.137423363dup, NC_000005.9:g.137423362_137423363dup, NC_000005.9:g.137423361_137423363dup, NC_000005.9:g.137423360_137423363dup, NC_000005.9:g.137423359_137423363dup, NC_000005.9:g.137423358_137423363dup, NC_000005.9:g.137423357_137423363dup, NC_000005.9:g.137423356_137423363dup, NC_000005.9:g.137423355_137423363dup, NC_000005.9:g.137423354_137423363dup, NC_000005.9:g.137423353_137423363dup, NC_000005.9:g.137423363_137423364insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491076109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATA
[Show Flanks]
- Chromosome:
- 5:138084670
(GRCh38)
5:137420360
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138084670:ATA:ATAATA
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAATA=0./0
(
ALFA)
ATA=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490956545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:138077545
(GRCh38)
5:137413234
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138077544:A:T
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490890351 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGCACCACTGCACT>-
[Show Flanks]
- Chromosome:
- 5:138076356
(GRCh38)
5:137412045
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138076354:TTGCACCACTGCACT:T
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490802411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:138091327
(GRCh38)
5:137427016
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138091326:C:T
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000009/2
(GnomAD_exomes)
- HGVS:
NC_000005.10:g.138091327C>T, NC_000005.9:g.137427016C>T, NM_058244.4:c.*254C>T, NM_058244.3:c.*254C>T, NM_058244.2:c.*254C>T, NM_001300939.2:c.*254C>T, NM_001300939.1:c.*254C>T, XM_017009826.2:c.*254C>T, XM_017009826.1:c.*254C>T, XM_047417692.1:c.*254C>T, XM_047417693.1:c.*254C>T
13.
rs1490751454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:138089109
(GRCh38)
5:137424798
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138089108:C:T
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490556626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:138078085
(GRCh38)
5:137413774
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138078084:A:G
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490541880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:138080984
(GRCh38)
5:137416673
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138080983:G:A
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490482405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:138093368
(GRCh38)
5:137429057
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138093367:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490403197 has merged into rs1055782364 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 5:138075813
(GRCh38)
5:137411502
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138075812:AAAAAAAA:AAAAAAA,NC_000005.10:138075812:AAAAAAAA:AAAAAAAAA
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.00007/1
(
ALFA)
- HGVS:
20.
rs1490138358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:138078120
(GRCh38)
5:137413809
(GRCh37)
- Canonical SPDI:
- NC_000005.10:138078119:T:C
- Gene:
- WNT8A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: