Links from Gene
Items: 1 to 20 of 30585
1.
rs1491578257 has merged into rs67210395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:75010713
(GRCh38)
16:75044611
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75010711:TTTTTTT:T,NC_000016.10:75010711:TTTTTTT:TT,NC_000016.10:75010711:TTTTTTT:TTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.75010713_75010718del, NC_000016.10:g.75010714_75010718del, NC_000016.10:g.75010717_75010718del, NC_000016.10:g.75010718del, NC_000016.10:g.75010718dup, NC_000016.10:g.75010717_75010718dup, NC_000016.10:g.75010716_75010718dup, NC_000016.10:g.75010715_75010718dup, NC_000016.10:g.75010714_75010718dup, NC_000016.10:g.75010713_75010718dup, NC_000016.10:g.75010712_75010718dup, NC_000016.10:g.75010718_75010719insTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044611_75044616del, NC_000016.9:g.75044612_75044616del, NC_000016.9:g.75044615_75044616del, NC_000016.9:g.75044616del, NC_000016.9:g.75044616dup, NC_000016.9:g.75044615_75044616dup, NC_000016.9:g.75044614_75044616dup, NC_000016.9:g.75044613_75044616dup, NC_000016.9:g.75044612_75044616dup, NC_000016.9:g.75044611_75044616dup, NC_000016.9:g.75044610_75044616dup, NC_000016.9:g.75044616_75044617insTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491568892 has merged into rs71158569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 16:74997810
(GRCh38)
16:75031708
(GRCh37)
- Canonical SPDI:
- NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0148/57
(ALSPAC)
A=0.017/63
(TWINSUK)
A=0.1741/872
(1000Genomes)
A=0.3/12
(GENOME_DK)
- HGVS:
NC_000016.10:g.74997810_74997815del, NC_000016.10:g.74997812_74997815del, NC_000016.10:g.74997813_74997815del, NC_000016.10:g.74997814_74997815del, NC_000016.10:g.74997815del, NC_000016.10:g.74997815dup, NC_000016.10:g.74997814_74997815dup, NC_000016.9:g.75031708_75031713del, NC_000016.9:g.75031710_75031713del, NC_000016.9:g.75031711_75031713del, NC_000016.9:g.75031712_75031713del, NC_000016.9:g.75031713del, NC_000016.9:g.75031713dup, NC_000016.9:g.75031712_75031713dup
3.
rs1491568453 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 16:75058107
(GRCh38)
16:75092006
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75058107:TTT:TTTCTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTT=0./0
(
ALFA)
TTTC=0.00036/1
(GnomAD)
- HGVS:
4.
rs1491567226 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:75053589
(GRCh38)
16:75087487
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75053588:CA:
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00034/4
(
ALFA)
-=0.00011/3
(TOMMO)
- HGVS:
5.
rs1491487956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:75059245
(GRCh38)
16:75093143
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75059243:TCT:T
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0086/102
(
ALFA)
-=0.00046/7
(TOMMO)
-=0.00204/162
(GnomAD)
-=0.19071/735
(ALSPAC)
-=0.4021/1491
(TWINSUK)
- HGVS:
6.
rs1491477752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:75053641
(GRCh38)
16:75087540
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75053641:GGGG:GGGGG
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000079/11
(GnomAD)
G=0.001062/18
(TOMMO)
G=0.003275/6
(Korea1K)
- HGVS:
8.
rs1491383408 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:75058122
(GRCh38)
16:75092020
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75058121:TA:
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000133/18
(GnomAD)
- HGVS:
9.
rs1491364616 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTT
[Show Flanks]
- Chromosome:
- 16:75010712
(GRCh38)
16:75044611
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75010712:TTTT:TTTTGTTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTGTTTT=0.01256/149
(
ALFA)
TTTTG=0.02593/14
(NorthernSweden)
TTTTG=0.07568/3051
(GnomAD)
- HGVS:
10.
rs1491341275 has merged into rs1215518352 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 16:75058124
(GRCh38)
16:75092022
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75058122:AAA:A,NC_000016.10:75058122:AAA:AA,NC_000016.10:75058122:AAA:AAAA
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0.000217/4
(
ALFA)
A=0.000008/2
(TOPMED)
-=0.003008/50
(TOMMO)
- HGVS:
12.
rs1491315694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAGAGAGTG,AGAGAGAGTGAGTG,AGAGAGAGTGAGTGTG,AGAGAGTGAGTGTG,AGAGTGAGTG,AGTG
[Show Flanks]
- Chromosome:
- 16:75085817
(GRCh38)
16:75119716
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75085817:G:GAGAGAGAGTG,NC_000016.10:75085817:G:GAGAGAGAGTGAGTG,NC_000016.10:75085817:G:GAGAGAGAGTGAGTGTG,NC_000016.10:75085817:G:GAGAGAGTGAGTGTG,NC_000016.10:75085817:G:GAGAGTGAGTG,NC_000016.10:75085817:G:GAGTG
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGTGAGTG=0./0
(
ALFA)
GAGT=0.000008/2
(TOPMED)
GAGAGAGAGT=0.000015/2
(GnomAD)
GAGAGAGAGT=0.000177/3
(TOMMO)
- HGVS:
NC_000016.10:g.75085818GA[4]GTG[1], NC_000016.10:g.75085818GA[4]GTGAGTG[1], NC_000016.10:g.75085818GA[4]GTGAGTGTG[1], NC_000016.10:g.75085818GA[3]GTGAGTGTG[1], NC_000016.10:g.75085818GA[2]GTGAGTG[1], NC_000016.10:g.75085818_75085819insAGTG, NC_000016.9:g.75119716GA[4]GTG[1], NC_000016.9:g.75119716GA[4]GTGAGTG[1], NC_000016.9:g.75119716GA[4]GTGAGTGTG[1], NC_000016.9:g.75119716GA[3]GTGAGTGTG[1], NC_000016.9:g.75119716GA[2]GTGAGTG[1], NC_000016.9:g.75119716_75119717insAGTG
13.
rs1491292095 has merged into rs59468839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:75030843
(GRCh38)
16:75064741
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000363/96
(TOPMED)
-=0.044369/171
(ALSPAC)
- HGVS:
NC_000016.10:g.75030843_75030855del, NC_000016.10:g.75030845_75030855del, NC_000016.10:g.75030847_75030855del, NC_000016.10:g.75030848_75030855del, NC_000016.10:g.75030849_75030855del, NC_000016.10:g.75030850_75030855del, NC_000016.10:g.75030851_75030855del, NC_000016.10:g.75030852_75030855del, NC_000016.10:g.75030854_75030855del, NC_000016.10:g.75030855del, NC_000016.10:g.75030855dup, NC_000016.10:g.75030854_75030855dup, NC_000016.10:g.75030853_75030855dup, NC_000016.10:g.75030852_75030855dup, NC_000016.10:g.75030851_75030855dup, NC_000016.10:g.75030850_75030855dup, NC_000016.10:g.75030849_75030855dup, NC_000016.10:g.75030848_75030855dup, NC_000016.10:g.75030847_75030855dup, NC_000016.10:g.75030846_75030855dup, NC_000016.10:g.75030845_75030855dup, NC_000016.10:g.75030844_75030855dup, NC_000016.10:g.75030842_75030855dup, NC_000016.10:g.75030841_75030855dup, NC_000016.10:g.75030840_75030855dup, NC_000016.10:g.75030838_75030855dup, NC_000016.10:g.75030837_75030855dup, NC_000016.10:g.75030836_75030855dup, NC_000016.10:g.75030835_75030855dup, NC_000016.10:g.75030834_75030855dup, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064741_75064753del, NC_000016.9:g.75064743_75064753del, NC_000016.9:g.75064745_75064753del, NC_000016.9:g.75064746_75064753del, NC_000016.9:g.75064747_75064753del, NC_000016.9:g.75064748_75064753del, NC_000016.9:g.75064749_75064753del, NC_000016.9:g.75064750_75064753del, NC_000016.9:g.75064752_75064753del, NC_000016.9:g.75064753del, NC_000016.9:g.75064753dup, NC_000016.9:g.75064752_75064753dup, NC_000016.9:g.75064751_75064753dup, NC_000016.9:g.75064750_75064753dup, NC_000016.9:g.75064749_75064753dup, NC_000016.9:g.75064748_75064753dup, NC_000016.9:g.75064747_75064753dup, NC_000016.9:g.75064746_75064753dup, NC_000016.9:g.75064745_75064753dup, NC_000016.9:g.75064744_75064753dup, NC_000016.9:g.75064743_75064753dup, NC_000016.9:g.75064742_75064753dup, NC_000016.9:g.75064740_75064753dup, NC_000016.9:g.75064739_75064753dup, NC_000016.9:g.75064738_75064753dup, NC_000016.9:g.75064736_75064753dup, NC_000016.9:g.75064735_75064753dup, NC_000016.9:g.75064734_75064753dup, NC_000016.9:g.75064733_75064753dup, NC_000016.9:g.75064732_75064753dup, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1491270677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAAGAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:74997801
(GRCh38)
16:75031700
(GRCh37)
- Canonical SPDI:
- NC_000016.10:74997801:AAAAAAAAAAAAA:AAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAA
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAGAAAAG=0.00051/1
(GnomAD)
- HGVS:
16.
rs1491193952 has merged into rs55813752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:75033449
(GRCh38)
16:75067347
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.1454/728
(1000Genomes)
TT=0.3467/208
(NorthernSweden)
- HGVS:
NC_000016.10:g.75033449_75033457del, NC_000016.10:g.75033451_75033457del, NC_000016.10:g.75033452_75033457del, NC_000016.10:g.75033453_75033457del, NC_000016.10:g.75033454_75033457del, NC_000016.10:g.75033455_75033457del, NC_000016.10:g.75033456_75033457del, NC_000016.10:g.75033457del, NC_000016.10:g.75033457dup, NC_000016.10:g.75033456_75033457dup, NC_000016.10:g.75033455_75033457dup, NC_000016.10:g.75033457_75033458insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75067347_75067355del, NC_000016.9:g.75067349_75067355del, NC_000016.9:g.75067350_75067355del, NC_000016.9:g.75067351_75067355del, NC_000016.9:g.75067352_75067355del, NC_000016.9:g.75067353_75067355del, NC_000016.9:g.75067354_75067355del, NC_000016.9:g.75067355del, NC_000016.9:g.75067355dup, NC_000016.9:g.75067354_75067355dup, NC_000016.9:g.75067353_75067355dup, NC_000016.9:g.75067355_75067356insTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491177008 has merged into rs11321828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:75007072
(GRCh38)
16:75040970
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3866/1936
(1000Genomes)
- HGVS:
NC_000016.10:g.75007072_75007078del, NC_000016.10:g.75007075_75007078del, NC_000016.10:g.75007076_75007078del, NC_000016.10:g.75007077_75007078del, NC_000016.10:g.75007078del, NC_000016.10:g.75007078dup, NC_000016.10:g.75007077_75007078dup, NC_000016.10:g.75007076_75007078dup, NC_000016.10:g.75007075_75007078dup, NC_000016.10:g.75007071_75007078dup, NC_000016.9:g.75040970_75040976del, NC_000016.9:g.75040973_75040976del, NC_000016.9:g.75040974_75040976del, NC_000016.9:g.75040975_75040976del, NC_000016.9:g.75040976del, NC_000016.9:g.75040976dup, NC_000016.9:g.75040975_75040976dup, NC_000016.9:g.75040974_75040976dup, NC_000016.9:g.75040973_75040976dup, NC_000016.9:g.75040969_75040976dup, XM_017023794.2:c.*4702_*4708del, XM_017023794.2:c.*4705_*4708del, XM_017023794.2:c.*4706_*4708del, XM_017023794.2:c.*4707_*4708del, XM_017023794.2:c.*4708del, XM_017023794.2:c.*4708dup, XM_017023794.2:c.*4707_*4708dup, XM_017023794.2:c.*4706_*4708dup, XM_017023794.2:c.*4705_*4708dup, XM_017023794.2:c.*4701_*4708dup
18.
rs1491106309 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 16:75096058
(GRCh38)
16:75129956
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75096057:GC:
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0672/249
(TWINSUK)
-=0.0815/314
(ALSPAC)
- HGVS:
19.
rs1491081880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 16:75085819
(GRCh38)
16:75119717
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75085817:GTG:G
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.00081/14
(TOMMO)
- HGVS:
20.
rs1491052513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 16:75010719
(GRCh38)
16:75044617
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75010717:TGT:T
- Gene:
- ZNRF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00025/3
(
ALFA)
-=0.0008/12
(TOMMO)
-=0.00209/106
(GnomAD)
-=0.01022/18
(Korea1K)
- HGVS: