Links from Gene
Items: 1 to 20 of 1000
2.
rs1491502187 has merged into rs538009004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:75978989
(GRCh38)
4:76900142
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75978982:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.0038/19
(1000Genomes)
- HGVS:
NC_000004.12:g.75978989_75979011del, NC_000004.12:g.75978995_75979011del, NC_000004.12:g.75978996_75979011del, NC_000004.12:g.75978997_75979011del, NC_000004.12:g.75978998_75979011del, NC_000004.12:g.75978999_75979011del, NC_000004.12:g.75979000_75979011del, NC_000004.12:g.75979001_75979011del, NC_000004.12:g.75979002_75979011del, NC_000004.12:g.75979003_75979011del, NC_000004.12:g.75979004_75979011del, NC_000004.12:g.75979005_75979011del, NC_000004.12:g.75979006_75979011del, NC_000004.12:g.75979007_75979011del, NC_000004.12:g.75979008_75979011del, NC_000004.12:g.75979009_75979011del, NC_000004.12:g.75979010_75979011del, NC_000004.12:g.75979011del, NC_000004.12:g.75979011dup, NC_000004.12:g.75979010_75979011dup, NC_000004.12:g.75979009_75979011dup, NC_000004.12:g.75979008_75979011dup, NC_000004.12:g.75979007_75979011dup, NC_000004.12:g.75979006_75979011dup, NC_000004.12:g.75979005_75979011dup, NC_000004.12:g.75979004_75979011dup, NC_000004.12:g.75979003_75979011dup, NC_000004.12:g.75979002_75979011dup, NC_000004.12:g.75979001_75979011dup, NC_000004.12:g.75979000_75979011dup, NC_000004.12:g.75978999_75979011dup, NC_000004.12:g.75978998_75979011dup, NC_000004.12:g.75978997_75979011dup, NC_000004.12:g.75978996_75979011dup, NC_000004.12:g.75978995_75979011dup, NC_000004.12:g.75978994_75979011dup, NC_000004.12:g.75978993_75979011dup, NC_000004.12:g.75978992_75979011dup, NC_000004.12:g.75978991_75979011dup, NC_000004.12:g.75978990_75979011dup, NC_000004.12:g.75978989_75979011dup, NC_000004.12:g.75978988_75979011dup, NC_000004.12:g.75978987_75979011dup, NC_000004.12:g.75978986_75979011dup, NC_000004.12:g.75978985_75979011dup, NC_000004.12:g.75978984_75979011dup, NC_000004.12:g.75978983_75979011dup, NC_000004.12:g.75979011_75979012insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.75979011_75979012insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.75979011_75979012insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.75979011_75979012insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.75979011_75979012insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76900142_76900164del, NC_000004.11:g.76900148_76900164del, NC_000004.11:g.76900149_76900164del, NC_000004.11:g.76900150_76900164del, NC_000004.11:g.76900151_76900164del, NC_000004.11:g.76900152_76900164del, NC_000004.11:g.76900153_76900164del, NC_000004.11:g.76900154_76900164del, NC_000004.11:g.76900155_76900164del, NC_000004.11:g.76900156_76900164del, NC_000004.11:g.76900157_76900164del, NC_000004.11:g.76900158_76900164del, NC_000004.11:g.76900159_76900164del, NC_000004.11:g.76900160_76900164del, NC_000004.11:g.76900161_76900164del, NC_000004.11:g.76900162_76900164del, NC_000004.11:g.76900163_76900164del, NC_000004.11:g.76900164del, NC_000004.11:g.76900164dup, NC_000004.11:g.76900163_76900164dup, NC_000004.11:g.76900162_76900164dup, NC_000004.11:g.76900161_76900164dup, NC_000004.11:g.76900160_76900164dup, NC_000004.11:g.76900159_76900164dup, NC_000004.11:g.76900158_76900164dup, NC_000004.11:g.76900157_76900164dup, NC_000004.11:g.76900156_76900164dup, NC_000004.11:g.76900155_76900164dup, NC_000004.11:g.76900154_76900164dup, NC_000004.11:g.76900153_76900164dup, NC_000004.11:g.76900152_76900164dup, NC_000004.11:g.76900151_76900164dup, NC_000004.11:g.76900150_76900164dup, NC_000004.11:g.76900149_76900164dup, NC_000004.11:g.76900148_76900164dup, NC_000004.11:g.76900147_76900164dup, NC_000004.11:g.76900146_76900164dup, NC_000004.11:g.76900145_76900164dup, NC_000004.11:g.76900144_76900164dup, NC_000004.11:g.76900143_76900164dup, NC_000004.11:g.76900142_76900164dup, NC_000004.11:g.76900141_76900164dup, NC_000004.11:g.76900140_76900164dup, NC_000004.11:g.76900139_76900164dup, NC_000004.11:g.76900138_76900164dup, NC_000004.11:g.76900137_76900164dup, NC_000004.11:g.76900136_76900164dup, NC_000004.11:g.76900164_76900165insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76900164_76900165insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76900164_76900165insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76900164_76900165insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76900164_76900165insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491423171 has merged into rs11294605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,C,CC,CCC,CCCCC,CCCCCC
[Show Flanks]
- Chromosome:
- 4:75990284
(GRCh38)
4:76911437
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCC,NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000004.12:75990274:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0.0005/3
(
ALFA)
CC=0.348/1743
(1000Genomes)
- HGVS:
NC_000004.12:g.75990284_75990287del, NC_000004.12:g.75990285_75990287del, NC_000004.12:g.75990286_75990287del, NC_000004.12:g.75990287del, NC_000004.12:g.75990287dup, NC_000004.12:g.75990286_75990287dup, NC_000004.11:g.76911437_76911440del, NC_000004.11:g.76911438_76911440del, NC_000004.11:g.76911439_76911440del, NC_000004.11:g.76911440del, NC_000004.11:g.76911440dup, NC_000004.11:g.76911439_76911440dup
7.
rs1491254841 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:75964601
(GRCh38)
4:76885755
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75964601:AAAA:AAAAAAAAAAAAAAA
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAAAAAAAAA=0.0013/6
(
ALFA)
- HGVS:
9.
rs1491228467 has merged into rs36025367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:75974417
(GRCh38)
4:76895570
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75974402:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4653/2330
(1000Genomes)
- HGVS:
NC_000004.12:g.75974417_75974420del, NC_000004.12:g.75974418_75974420del, NC_000004.12:g.75974419_75974420del, NC_000004.12:g.75974420del, NC_000004.12:g.75974420dup, NC_000004.12:g.75974419_75974420dup, NC_000004.12:g.75974418_75974420dup, NC_000004.12:g.75974416_75974420dup, NC_000004.12:g.75974415_75974420dup, NC_000004.12:g.75974403_75974420A[26]GAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.76895570_76895573del, NC_000004.11:g.76895571_76895573del, NC_000004.11:g.76895572_76895573del, NC_000004.11:g.76895573del, NC_000004.11:g.76895573dup, NC_000004.11:g.76895572_76895573dup, NC_000004.11:g.76895571_76895573dup, NC_000004.11:g.76895569_76895573dup, NC_000004.11:g.76895568_76895573dup, NC_000004.11:g.76895556_76895573A[26]GAAAAAAAAAAAAAAAAAAAA[1]
10.
rs1491206608 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:75964601
(GRCh38)
4:76885754
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75964600:TA:
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
11.
rs1491151940 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 4:75990276
(GRCh38)
4:76911430
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75990276::A,NC_000004.12:75990276::G
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000123/2
(GnomAD)
A=0.000959/10
(TOMMO)
- HGVS:
14.
rs1491071039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:75977976
(GRCh38)
4:76899129
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75977974:ATA:A
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1491058871 has merged into rs375225256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 4:75966284
(GRCh38)
4:76887437
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75966267:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
-=0.1713/660
(ALSPAC)
- HGVS:
NC_000004.12:g.75966268AC[8], NC_000004.12:g.75966268AC[9], NC_000004.12:g.75966268AC[10], NC_000004.12:g.75966268AC[11], NC_000004.12:g.75966268AC[12], NC_000004.12:g.75966268AC[13], NC_000004.12:g.75966268AC[14], NC_000004.12:g.75966268AC[15], NC_000004.12:g.75966268AC[16], NC_000004.12:g.75966268AC[17], NC_000004.12:g.75966268AC[18], NC_000004.12:g.75966268AC[19], NC_000004.12:g.75966268AC[20], NC_000004.12:g.75966268AC[21], NC_000004.12:g.75966268AC[22], NC_000004.12:g.75966268AC[24], NC_000004.12:g.75966268AC[25], NC_000004.12:g.75966268AC[26], NC_000004.12:g.75966268AC[27], NC_000004.12:g.75966268AC[28], NC_000004.12:g.75966268AC[29], NC_000004.12:g.75966268AC[30], NC_000004.12:g.75966268AC[31], NC_000004.12:g.75966268AC[32], NC_000004.12:g.75966268AC[33], NC_000004.11:g.76887421AC[8], NC_000004.11:g.76887421AC[9], NC_000004.11:g.76887421AC[10], NC_000004.11:g.76887421AC[11], NC_000004.11:g.76887421AC[12], NC_000004.11:g.76887421AC[13], NC_000004.11:g.76887421AC[14], NC_000004.11:g.76887421AC[15], NC_000004.11:g.76887421AC[16], NC_000004.11:g.76887421AC[17], NC_000004.11:g.76887421AC[18], NC_000004.11:g.76887421AC[19], NC_000004.11:g.76887421AC[20], NC_000004.11:g.76887421AC[21], NC_000004.11:g.76887421AC[22], NC_000004.11:g.76887421AC[24], NC_000004.11:g.76887421AC[25], NC_000004.11:g.76887421AC[26], NC_000004.11:g.76887421AC[27], NC_000004.11:g.76887421AC[28], NC_000004.11:g.76887421AC[29], NC_000004.11:g.76887421AC[30], NC_000004.11:g.76887421AC[31], NC_000004.11:g.76887421AC[32], NC_000004.11:g.76887421AC[33]
16.
rs1490934853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:75978926
(GRCh38)
4:76900079
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75978925:C:G
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000061/1
(
ALFA)
G=0.000033/4
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
17.
rs1490843321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:75991243
(GRCh38)
4:76912396
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75991242:T:A
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000178/25
(GnomAD)
A=0.000189/50
(TOPMED)
- HGVS:
19.
rs1490614654 has merged into rs35320227 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 4:75984791
(GRCh38)
4:76905944
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:75984778:ACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- SDAD1 (Varview), SDAD1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACAC=0./0
(
ALFA)
-=0.00275/728
(TOPMED)
AC=0.473043/2369
(1000Genomes)
- HGVS:
NC_000004.12:g.75984779AC[6], NC_000004.12:g.75984779AC[7], NC_000004.12:g.75984779AC[9], NC_000004.12:g.75984779AC[10], NC_000004.12:g.75984779AC[11], NC_000004.12:g.75984779AC[12], NC_000004.12:g.75984779AC[13], NC_000004.12:g.75984779AC[14], NC_000004.12:g.75984779AC[15], NC_000004.12:g.75984779AC[16], NC_000004.12:g.75984779AC[18], NC_000004.12:g.75984779AC[19], NC_000004.12:g.75984779AC[20], NC_000004.12:g.75984779AC[21], NC_000004.12:g.75984779AC[22], NC_000004.12:g.75984779AC[23], NC_000004.12:g.75984779AC[24], NC_000004.12:g.75984779AC[25], NC_000004.12:g.75984779AC[26], NC_000004.12:g.75984779AC[27], NC_000004.12:g.75984779AC[28], NC_000004.12:g.75984779AC[29], NC_000004.12:g.75984779AC[30], NC_000004.12:g.75984779AC[31], NC_000004.12:g.75984779AC[32], NC_000004.12:g.75984779AC[34], NC_000004.12:g.75984779AC[35], NC_000004.12:g.75984779AC[37], NC_000004.11:g.76905932AC[6], NC_000004.11:g.76905932AC[7], NC_000004.11:g.76905932AC[9], NC_000004.11:g.76905932AC[10], NC_000004.11:g.76905932AC[11], NC_000004.11:g.76905932AC[12], NC_000004.11:g.76905932AC[13], NC_000004.11:g.76905932AC[14], NC_000004.11:g.76905932AC[15], NC_000004.11:g.76905932AC[16], NC_000004.11:g.76905932AC[18], NC_000004.11:g.76905932AC[19], NC_000004.11:g.76905932AC[20], NC_000004.11:g.76905932AC[21], NC_000004.11:g.76905932AC[22], NC_000004.11:g.76905932AC[23], NC_000004.11:g.76905932AC[24], NC_000004.11:g.76905932AC[25], NC_000004.11:g.76905932AC[26], NC_000004.11:g.76905932AC[27], NC_000004.11:g.76905932AC[28], NC_000004.11:g.76905932AC[29], NC_000004.11:g.76905932AC[30], NC_000004.11:g.76905932AC[31], NC_000004.11:g.76905932AC[32], NC_000004.11:g.76905932AC[34], NC_000004.11:g.76905932AC[35], NC_000004.11:g.76905932AC[37]
20.
rs1490540894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:75969595
(GRCh38)
4:76890748
(GRCh37)
- Canonical SPDI:
- NC_000004.12:75969594:T:C
- Gene:
- SDAD1 (Varview)
- Functional Consequence:
- 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: