Links from Gene
Items: 1 to 20 of 6123
2.
rs1491391223 has merged into rs762678635 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:223951492
(GRCh38)
2:224816209
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223951478:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0101/283
(TOMMO)
- HGVS:
NC_000002.12:g.223951492_223951497del, NC_000002.12:g.223951493_223951497del, NC_000002.12:g.223951494_223951497del, NC_000002.12:g.223951495_223951497del, NC_000002.12:g.223951496_223951497del, NC_000002.12:g.223951497del, NC_000002.12:g.223951497dup, NC_000002.12:g.223951496_223951497dup, NC_000002.12:g.223951495_223951497dup, NC_000002.12:g.223951494_223951497dup, NC_000002.12:g.223951493_223951497dup, NC_000002.12:g.223951492_223951497dup, NC_000002.12:g.223951491_223951497dup, NC_000002.12:g.223951490_223951497dup, NC_000002.12:g.223951489_223951497dup, NC_000002.12:g.223951488_223951497dup, NC_000002.12:g.223951487_223951497dup, NC_000002.12:g.223951486_223951497dup, NC_000002.12:g.223951485_223951497dup, NC_000002.12:g.223951484_223951497dup, NC_000002.12:g.223951482_223951497dup, NC_000002.12:g.223951481_223951497dup, NC_000002.12:g.223951480_223951497dup, NC_000002.12:g.223951479_223951497dup, NC_000002.12:g.223951497_223951498insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223951497_223951498insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223951497_223951498insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223951497_223951498insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223951497_223951498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224816209_224816214del, NC_000002.11:g.224816210_224816214del, NC_000002.11:g.224816211_224816214del, NC_000002.11:g.224816212_224816214del, NC_000002.11:g.224816213_224816214del, NC_000002.11:g.224816214del, NC_000002.11:g.224816214dup, NC_000002.11:g.224816213_224816214dup, NC_000002.11:g.224816212_224816214dup, NC_000002.11:g.224816211_224816214dup, NC_000002.11:g.224816210_224816214dup, NC_000002.11:g.224816209_224816214dup, NC_000002.11:g.224816208_224816214dup, NC_000002.11:g.224816207_224816214dup, NC_000002.11:g.224816206_224816214dup, NC_000002.11:g.224816205_224816214dup, NC_000002.11:g.224816204_224816214dup, NC_000002.11:g.224816203_224816214dup, NC_000002.11:g.224816202_224816214dup, NC_000002.11:g.224816201_224816214dup, NC_000002.11:g.224816199_224816214dup, NC_000002.11:g.224816198_224816214dup, NC_000002.11:g.224816197_224816214dup, NC_000002.11:g.224816196_224816214dup, NC_000002.11:g.224816214_224816215insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224816214_224816215insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224816214_224816215insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224816214_224816215insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224816214_224816215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050679.1:g.5603_5608del, NG_050679.1:g.5604_5608del, NG_050679.1:g.5605_5608del, NG_050679.1:g.5606_5608del, NG_050679.1:g.5607_5608del, NG_050679.1:g.5608del, NG_050679.1:g.5608dup, NG_050679.1:g.5607_5608dup, NG_050679.1:g.5606_5608dup, NG_050679.1:g.5605_5608dup, NG_050679.1:g.5604_5608dup, NG_050679.1:g.5603_5608dup, NG_050679.1:g.5602_5608dup, NG_050679.1:g.5601_5608dup, NG_050679.1:g.5600_5608dup, NG_050679.1:g.5599_5608dup, NG_050679.1:g.5598_5608dup, NG_050679.1:g.5597_5608dup, NG_050679.1:g.5596_5608dup, NG_050679.1:g.5595_5608dup, NG_050679.1:g.5593_5608dup, NG_050679.1:g.5592_5608dup, NG_050679.1:g.5591_5608dup, NG_050679.1:g.5590_5608dup, NG_050679.1:g.5608_5609insTTTTTTTTTTTTTTTTTTTT, NG_050679.1:g.5608_5609insTTTTTTTTTTTTTTTTTTTTTT, NG_050679.1:g.5608_5609insTTTTTTTTTTTTTTTTTTTTTTT, NG_050679.1:g.5608_5609insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050679.1:g.5608_5609insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491337019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTGTTTGTTTTTTTT,GTTTTGTTTTGTTTTTTTT,GTTTTGTTTTTTGTTTTTTTT,GTTTTGTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:223951479
(GRCh38)
2:224816197
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223951479:TTTTTTTT:TTTTTTTTGTTTTGTTTGTTTTTTTT,NC_000002.12:223951479:TTTTTTTT:TTTTTTTTGTTTTGTTTTGTTTTTTTT,NC_000002.12:223951479:TTTTTTTT:TTTTTTTTGTTTTGTTTTTTGTTTTTTTT,NC_000002.12:223951479:TTTTTTTT:TTTTTTTTGTTTTGTTTTTTTT
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTGTTTTGTTTTGTTTTTTTT=0./0
(
ALFA)
TTTTTTTTGTTTTGTTTTG=0.00004/1
(TOMMO)
TTTTTTTTGTTTTG=0.00219/4
(Korea1K)
- HGVS:
NC_000002.12:g.223951480_223951487T[8]GTTTTGTTTGTTTTTTTT[1], NC_000002.12:g.223951480_223951487T[8]GTTTT[3]T[4], NC_000002.12:g.223951480_223951487T[8]GTTTT[2]TTGTTTTTTTT[1], NC_000002.12:g.223951480_223951487T[8]GTTTT[2]T[4], NC_000002.11:g.224816197_224816204T[8]GTTTTGTTTGTTTTTTTT[1], NC_000002.11:g.224816197_224816204T[8]GTTTT[3]T[4], NC_000002.11:g.224816197_224816204T[8]GTTTT[2]TTGTTTTTTTT[1], NC_000002.11:g.224816197_224816204T[8]GTTTT[2]T[4], NG_050679.1:g.5591_5598T[8]GTTTTGTTTGTTTTTTTT[1], NG_050679.1:g.5591_5598T[8]GTTTT[3]T[4], NG_050679.1:g.5591_5598T[8]GTTTT[2]TTGTTTTTTTT[1], NG_050679.1:g.5591_5598T[8]GTTTT[2]T[4]
4.
rs1491184677 has merged into rs57223015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:223942540
(GRCh38)
2:224807257
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:223942527:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.223942540_223942546del, NC_000002.12:g.223942541_223942546del, NC_000002.12:g.223942542_223942546del, NC_000002.12:g.223942543_223942546del, NC_000002.12:g.223942544_223942546del, NC_000002.12:g.223942545_223942546del, NC_000002.12:g.223942546del, NC_000002.12:g.223942546dup, NC_000002.12:g.223942545_223942546dup, NC_000002.12:g.223942544_223942546dup, NC_000002.12:g.223942543_223942546dup, NC_000002.12:g.223942542_223942546dup, NC_000002.12:g.223942541_223942546dup, NC_000002.12:g.223942540_223942546dup, NC_000002.12:g.223942539_223942546dup, NC_000002.12:g.223942538_223942546dup, NC_000002.12:g.223942537_223942546dup, NC_000002.12:g.223942536_223942546dup, NC_000002.12:g.223942535_223942546dup, NC_000002.12:g.223942534_223942546dup, NC_000002.12:g.223942533_223942546dup, NC_000002.12:g.223942532_223942546dup, NC_000002.12:g.223942531_223942546dup, NC_000002.12:g.223942530_223942546dup, NC_000002.12:g.223942529_223942546dup, NC_000002.12:g.223942546_223942547insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223942546_223942547insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223942546_223942547insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.223942546_223942547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224807257_224807263del, NC_000002.11:g.224807258_224807263del, NC_000002.11:g.224807259_224807263del, NC_000002.11:g.224807260_224807263del, NC_000002.11:g.224807261_224807263del, NC_000002.11:g.224807262_224807263del, NC_000002.11:g.224807263del, NC_000002.11:g.224807263dup, NC_000002.11:g.224807262_224807263dup, NC_000002.11:g.224807261_224807263dup, NC_000002.11:g.224807260_224807263dup, NC_000002.11:g.224807259_224807263dup, NC_000002.11:g.224807258_224807263dup, NC_000002.11:g.224807257_224807263dup, NC_000002.11:g.224807256_224807263dup, NC_000002.11:g.224807255_224807263dup, NC_000002.11:g.224807254_224807263dup, NC_000002.11:g.224807253_224807263dup, NC_000002.11:g.224807252_224807263dup, NC_000002.11:g.224807251_224807263dup, NC_000002.11:g.224807250_224807263dup, NC_000002.11:g.224807249_224807263dup, NC_000002.11:g.224807248_224807263dup, NC_000002.11:g.224807247_224807263dup, NC_000002.11:g.224807246_224807263dup, NC_000002.11:g.224807263_224807264insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224807263_224807264insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224807263_224807264insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.224807263_224807264insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491169178 has merged into rs11311599 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:223943194
(GRCh38)
2:224807911
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4647/2327
(1000Genomes)
- HGVS:
NC_000002.12:g.223943194_223943201del, NC_000002.12:g.223943195_223943201del, NC_000002.12:g.223943197_223943201del, NC_000002.12:g.223943198_223943201del, NC_000002.12:g.223943199_223943201del, NC_000002.12:g.223943200_223943201del, NC_000002.12:g.223943201del, NC_000002.12:g.223943201dup, NC_000002.12:g.223943200_223943201dup, NC_000002.12:g.223943199_223943201dup, NC_000002.12:g.223943198_223943201dup, NC_000002.12:g.223943197_223943201dup, NC_000002.12:g.223943193_223943201dup, NC_000002.11:g.224807911_224807918del, NC_000002.11:g.224807912_224807918del, NC_000002.11:g.224807914_224807918del, NC_000002.11:g.224807915_224807918del, NC_000002.11:g.224807916_224807918del, NC_000002.11:g.224807917_224807918del, NC_000002.11:g.224807918del, NC_000002.11:g.224807918dup, NC_000002.11:g.224807917_224807918dup, NC_000002.11:g.224807916_224807918dup, NC_000002.11:g.224807915_224807918dup, NC_000002.11:g.224807914_224807918dup, NC_000002.11:g.224807910_224807918dup
6.
rs1491159074 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:223943184
(GRCh38)
2:224807901
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223943183:TA:
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000053/2
(GnomAD)
- HGVS:
7.
rs1491020571 has merged into rs11311599 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:223943194
(GRCh38)
2:224807911
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:223943184:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4647/2327
(1000Genomes)
- HGVS:
NC_000002.12:g.223943194_223943201del, NC_000002.12:g.223943195_223943201del, NC_000002.12:g.223943197_223943201del, NC_000002.12:g.223943198_223943201del, NC_000002.12:g.223943199_223943201del, NC_000002.12:g.223943200_223943201del, NC_000002.12:g.223943201del, NC_000002.12:g.223943201dup, NC_000002.12:g.223943200_223943201dup, NC_000002.12:g.223943199_223943201dup, NC_000002.12:g.223943198_223943201dup, NC_000002.12:g.223943197_223943201dup, NC_000002.12:g.223943193_223943201dup, NC_000002.11:g.224807911_224807918del, NC_000002.11:g.224807912_224807918del, NC_000002.11:g.224807914_224807918del, NC_000002.11:g.224807915_224807918del, NC_000002.11:g.224807916_224807918del, NC_000002.11:g.224807917_224807918del, NC_000002.11:g.224807918del, NC_000002.11:g.224807918dup, NC_000002.11:g.224807917_224807918dup, NC_000002.11:g.224807916_224807918dup, NC_000002.11:g.224807915_224807918dup, NC_000002.11:g.224807914_224807918dup, NC_000002.11:g.224807910_224807918dup
8.
rs1490949488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223943452
(GRCh38)
2:224808169
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223943451:T:C
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490747069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:223953017
(GRCh38)
2:224817734
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223953016:A:T
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490740582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:223950515
(GRCh38)
2:224815232
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223950514:A:C
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
11.
rs1490721613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 2:223956013
(GRCh38)
2:224820730
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223956009:AGAGA:AGA
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490615719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:223967971
(GRCh38)
2:224832688
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223967970:A:G
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490255716 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:223951717
(GRCh38)
2:224816434
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223951716:G:
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000066/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
14.
rs1490159134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:223944614
(GRCh38)
2:224809331
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223944613:T:C,NC_000002.12:223944613:T:G
- Gene:
- WDFY1 (Varview), LOC124907989 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00035/6
(TOMMO)
G=0.01028/30
(KOREAN)
- HGVS:
16.
rs1489906952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:223966075
(GRCh38)
2:224830792
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223966074:C:G,NC_000002.12:223966074:C:T
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1489815881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:223953550
(GRCh38)
2:224818267
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223953549:G:A
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489764212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223952413
(GRCh38)
2:224817130
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223952412:T:C
- Gene:
- MRPL44 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: