Links from Gene
Items: 1 to 20 of 1000
1.
rs1491519630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:49449369
(GRCh38)
15:49741566
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49449364:TATATA:TATA
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.000086/12
(GnomAD)
-=0.000106/28
(TOPMED)
- HGVS:
2.
rs1491415173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTTT
[Show Flanks]
- Chromosome:
- 15:49479600
(GRCh38)
15:49771798
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49479600:TTTTTT:TTTTTTGTTTTTT
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTGTTTTTT=0.00093/11
(
ALFA)
TTTTTTG=0.01635/229
(GnomAD)
- HGVS:
3.
rs1491227265 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:49476232
(GRCh38)
15:49768429
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49476231:GT:
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00051/6
(
ALFA)
-=0.00239/64
(GnomAD)
-=0.04545/757
(TOMMO)
- HGVS:
4.
Error occurred: cannot get document summary
5.
rs1491106362 has merged into rs56097665 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:49479612
(GRCh38)
15:49771809
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49479599:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.49479612_49479628del, NC_000015.10:g.49479613_49479628del, NC_000015.10:g.49479614_49479628del, NC_000015.10:g.49479615_49479628del, NC_000015.10:g.49479616_49479628del, NC_000015.10:g.49479617_49479628del, NC_000015.10:g.49479618_49479628del, NC_000015.10:g.49479619_49479628del, NC_000015.10:g.49479620_49479628del, NC_000015.10:g.49479621_49479628del, NC_000015.10:g.49479622_49479628del, NC_000015.10:g.49479623_49479628del, NC_000015.10:g.49479624_49479628del, NC_000015.10:g.49479625_49479628del, NC_000015.10:g.49479626_49479628del, NC_000015.10:g.49479627_49479628del, NC_000015.10:g.49479628del, NC_000015.10:g.49479628dup, NC_000015.10:g.49479627_49479628dup, NC_000015.10:g.49479626_49479628dup, NC_000015.10:g.49479625_49479628dup, NC_000015.10:g.49479624_49479628dup, NC_000015.10:g.49479623_49479628dup, NC_000015.10:g.49479622_49479628dup, NC_000015.10:g.49479621_49479628dup, NC_000015.10:g.49479620_49479628dup, NC_000015.10:g.49479619_49479628dup, NC_000015.10:g.49479618_49479628dup, NC_000015.10:g.49479617_49479628dup, NC_000015.10:g.49479616_49479628dup, NC_000015.10:g.49479615_49479628dup, NC_000015.10:g.49479614_49479628dup, NC_000015.10:g.49479613_49479628dup, NC_000015.10:g.49479612_49479628dup, NC_000015.10:g.49479611_49479628dup, NC_000015.10:g.49479609_49479628dup, NC_000015.10:g.49479604_49479628dup, NC_000015.10:g.49479603_49479628dup, NC_000015.10:g.49479602_49479628dup, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.49479628_49479629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771809_49771825del, NC_000015.9:g.49771810_49771825del, NC_000015.9:g.49771811_49771825del, NC_000015.9:g.49771812_49771825del, NC_000015.9:g.49771813_49771825del, NC_000015.9:g.49771814_49771825del, NC_000015.9:g.49771815_49771825del, NC_000015.9:g.49771816_49771825del, NC_000015.9:g.49771817_49771825del, NC_000015.9:g.49771818_49771825del, NC_000015.9:g.49771819_49771825del, NC_000015.9:g.49771820_49771825del, NC_000015.9:g.49771821_49771825del, NC_000015.9:g.49771822_49771825del, NC_000015.9:g.49771823_49771825del, NC_000015.9:g.49771824_49771825del, NC_000015.9:g.49771825del, NC_000015.9:g.49771825dup, NC_000015.9:g.49771824_49771825dup, NC_000015.9:g.49771823_49771825dup, NC_000015.9:g.49771822_49771825dup, NC_000015.9:g.49771821_49771825dup, NC_000015.9:g.49771820_49771825dup, NC_000015.9:g.49771819_49771825dup, NC_000015.9:g.49771818_49771825dup, NC_000015.9:g.49771817_49771825dup, NC_000015.9:g.49771816_49771825dup, NC_000015.9:g.49771815_49771825dup, NC_000015.9:g.49771814_49771825dup, NC_000015.9:g.49771813_49771825dup, NC_000015.9:g.49771812_49771825dup, NC_000015.9:g.49771811_49771825dup, NC_000015.9:g.49771810_49771825dup, NC_000015.9:g.49771809_49771825dup, NC_000015.9:g.49771808_49771825dup, NC_000015.9:g.49771806_49771825dup, NC_000015.9:g.49771801_49771825dup, NC_000015.9:g.49771800_49771825dup, NC_000015.9:g.49771799_49771825dup, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.49771825_49771826insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61435_61451del, NG_029159.1:g.61436_61451del, NG_029159.1:g.61437_61451del, NG_029159.1:g.61438_61451del, NG_029159.1:g.61439_61451del, NG_029159.1:g.61440_61451del, NG_029159.1:g.61441_61451del, NG_029159.1:g.61442_61451del, NG_029159.1:g.61443_61451del, NG_029159.1:g.61444_61451del, NG_029159.1:g.61445_61451del, NG_029159.1:g.61446_61451del, NG_029159.1:g.61447_61451del, NG_029159.1:g.61448_61451del, NG_029159.1:g.61449_61451del, NG_029159.1:g.61450_61451del, NG_029159.1:g.61451del, NG_029159.1:g.61451dup, NG_029159.1:g.61450_61451dup, NG_029159.1:g.61449_61451dup, NG_029159.1:g.61448_61451dup, NG_029159.1:g.61447_61451dup, NG_029159.1:g.61446_61451dup, NG_029159.1:g.61445_61451dup, NG_029159.1:g.61444_61451dup, NG_029159.1:g.61443_61451dup, NG_029159.1:g.61442_61451dup, NG_029159.1:g.61441_61451dup, NG_029159.1:g.61440_61451dup, NG_029159.1:g.61439_61451dup, NG_029159.1:g.61438_61451dup, NG_029159.1:g.61437_61451dup, NG_029159.1:g.61436_61451dup, NG_029159.1:g.61435_61451dup, NG_029159.1:g.61434_61451dup, NG_029159.1:g.61432_61451dup, NG_029159.1:g.61427_61451dup, NG_029159.1:g.61426_61451dup, NG_029159.1:g.61425_61451dup, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029159.1:g.61451_61452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491080748 has merged into rs35283556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:49480486
(GRCh38)
15:49772683
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:49480474:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0569/211
(TWINSUK)
-=0.0573/221
(ALSPAC)
- HGVS:
NC_000015.10:g.49480486_49480496del, NC_000015.10:g.49480490_49480496del, NC_000015.10:g.49480491_49480496del, NC_000015.10:g.49480492_49480496del, NC_000015.10:g.49480493_49480496del, NC_000015.10:g.49480494_49480496del, NC_000015.10:g.49480495_49480496del, NC_000015.10:g.49480496del, NC_000015.10:g.49480496dup, NC_000015.10:g.49480495_49480496dup, NC_000015.10:g.49480494_49480496dup, NC_000015.10:g.49480493_49480496dup, NC_000015.10:g.49480492_49480496dup, NC_000015.10:g.49480491_49480496dup, NC_000015.10:g.49480490_49480496dup, NC_000015.10:g.49480489_49480496dup, NC_000015.9:g.49772683_49772693del, NC_000015.9:g.49772687_49772693del, NC_000015.9:g.49772688_49772693del, NC_000015.9:g.49772689_49772693del, NC_000015.9:g.49772690_49772693del, NC_000015.9:g.49772691_49772693del, NC_000015.9:g.49772692_49772693del, NC_000015.9:g.49772693del, NC_000015.9:g.49772693dup, NC_000015.9:g.49772692_49772693dup, NC_000015.9:g.49772691_49772693dup, NC_000015.9:g.49772690_49772693dup, NC_000015.9:g.49772689_49772693dup, NC_000015.9:g.49772688_49772693dup, NC_000015.9:g.49772687_49772693dup, NC_000015.9:g.49772686_49772693dup, NG_029159.1:g.62309_62319del, NG_029159.1:g.62313_62319del, NG_029159.1:g.62314_62319del, NG_029159.1:g.62315_62319del, NG_029159.1:g.62316_62319del, NG_029159.1:g.62317_62319del, NG_029159.1:g.62318_62319del, NG_029159.1:g.62319del, NG_029159.1:g.62319dup, NG_029159.1:g.62318_62319dup, NG_029159.1:g.62317_62319dup, NG_029159.1:g.62316_62319dup, NG_029159.1:g.62315_62319dup, NG_029159.1:g.62314_62319dup, NG_029159.1:g.62313_62319dup, NG_029159.1:g.62312_62319dup
7.
rs1491034892 has merged into rs35262082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 15:49472032
(GRCh38)
15:49764229
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.49472032_49472034del, NC_000015.10:g.49472033_49472034del, NC_000015.10:g.49472034del, NC_000015.10:g.49472034dup, NC_000015.10:g.49472033_49472034dup, NC_000015.9:g.49764229_49764231del, NC_000015.9:g.49764230_49764231del, NC_000015.9:g.49764231del, NC_000015.9:g.49764231dup, NC_000015.9:g.49764230_49764231dup, NG_029159.1:g.53855_53857del, NG_029159.1:g.53856_53857del, NG_029159.1:g.53857del, NG_029159.1:g.53857dup, NG_029159.1:g.53856_53857dup
8.
rs1491033089 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 15:49422175
(GRCh38)
15:49714373
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49422175:G:GTG
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTG=0./0
(
ALFA)
GT=0.000008/1
(GnomAD)
- HGVS:
9.
rs1491004841 has merged into rs79465035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 15:49485482
(GRCh38)
15:49777679
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49485473:AAAAAAAAAA:AAAAAAAA,NC_000015.10:49485473:AAAAAAAAAA:AAAAAAAAA,NC_000015.10:49485473:AAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:49485473:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.008518/10
(1000Genomes)
-=0.19717/52189
(TOPMED)
-=0.221847/855
(ALSPAC)
-=0.225189/835
(TWINSUK)
-=0.241667/145
(NorthernSweden)
- HGVS:
NC_000015.10:g.49485482_49485483del, NC_000015.10:g.49485483del, NC_000015.10:g.49485483dup, NC_000015.10:g.49485482_49485483dup, NC_000015.9:g.49777679_49777680del, NC_000015.9:g.49777680del, NC_000015.9:g.49777680dup, NC_000015.9:g.49777679_49777680dup, NG_029159.1:g.67305_67306del, NG_029159.1:g.67306del, NG_029159.1:g.67306dup, NG_029159.1:g.67305_67306dup, NM_002009.4:c.*978_*979del, NM_002009.4:c.*979del, NM_002009.4:c.*979dup, NM_002009.4:c.*978_*979dup, NM_002009.3:c.*978_*979del, NM_002009.3:c.*979del, NM_002009.3:c.*979dup, NM_002009.3:c.*978_*979dup, XM_024449863.2:c.*3837_*3838del, XM_024449863.2:c.*3838del, XM_024449863.2:c.*3838dup, XM_024449863.2:c.*3837_*3838dup
10.
rs1491001871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:49428212
(GRCh38)
15:49720409
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49428211:G:A
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490977450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:49428099
(GRCh38)
15:49720296
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49428098:G:A
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490898048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:49448078
(GRCh38)
15:49740275
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49448077:C:T
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490818707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:49465184
(GRCh38)
15:49757381
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49465183:C:A
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_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:
14.
rs1490727798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:49484792
(GRCh38)
15:49776989
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49484791:T:C
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
15.
rs1490714048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:49437933
(GRCh38)
15:49730130
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49437932:C:T
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490655901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:49464646
(GRCh38)
15:49756843
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49464645:C:G
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490583867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:49481483
(GRCh38)
15:49773680
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49481482:A:G
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490580180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:49463648
(GRCh38)
15:49755845
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49463647:G:C
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000057/15
(TOPMED)
C=0.001092/2
(Korea1K)
- HGVS:
19.
rs1490572985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:49426412
(GRCh38)
15:49718609
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49426411:T:A
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490558714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:49480345
(GRCh38)
15:49772542
(GRCh37)
- Canonical SPDI:
- NC_000015.10:49480344:C:G,NC_000015.10:49480344:C:T
- Gene:
- FGF7 (Varview), FAM227B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: