Links from Gene
Items: 1 to 20 of 9932
2.
rs1491542604 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 16:20041259
(GRCh38)
16:20052582
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20041259::GG
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
GG=0.00134/6
(GnomAD)
- HGVS:
3.
rs1491532287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAAA
[Show Flanks]
- Chromosome:
- 16:20051063
(GRCh38)
16:20062386
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20051063:AAAAA:AAAAAGAAAAA
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAGAAAAA=0./0
(
ALFA)
AAAAAG=0.0003/5
(GnomAD)
- HGVS:
6.
rs1491478870 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:20061214
(GRCh38)
16:20072536
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20061213:GA:
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000671/3
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.001879/255
(GnomAD)
- HGVS:
7.
rs1491375906 has merged into rs3041359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:20051072
(GRCh38)
16:20062394
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20051062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.20051072_20051075del, NC_000016.10:g.20051073_20051075del, NC_000016.10:g.20051074_20051075del, NC_000016.10:g.20051075del, NC_000016.10:g.20051075dup, NC_000016.10:g.20051074_20051075dup, NC_000016.10:g.20051073_20051075dup, NC_000016.10:g.20051072_20051075dup, NC_000016.10:g.20051071_20051075dup, NC_000016.10:g.20051070_20051075dup, NC_000016.10:g.20051069_20051075dup, NC_000016.10:g.20051068_20051075dup, NC_000016.10:g.20051067_20051075dup, NC_000016.10:g.20051066_20051075dup, NC_000016.10:g.20051065_20051075dup, NC_000016.10:g.20051064_20051075dup, NC_000016.10:g.20051075_20051076insAAAAAAAAAAAAAA, NC_000016.9:g.20062394_20062397del, NC_000016.9:g.20062395_20062397del, NC_000016.9:g.20062396_20062397del, NC_000016.9:g.20062397del, NC_000016.9:g.20062397dup, NC_000016.9:g.20062396_20062397dup, NC_000016.9:g.20062395_20062397dup, NC_000016.9:g.20062394_20062397dup, NC_000016.9:g.20062393_20062397dup, NC_000016.9:g.20062392_20062397dup, NC_000016.9:g.20062391_20062397dup, NC_000016.9:g.20062390_20062397dup, NC_000016.9:g.20062389_20062397dup, NC_000016.9:g.20062388_20062397dup, NC_000016.9:g.20062387_20062397dup, NC_000016.9:g.20062386_20062397dup, NC_000016.9:g.20062397_20062398insAAAAAAAAAAAAAA
9.
rs1491368145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:20053841
(GRCh38)
16:20065164
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20053841:C:CC
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000132/35
(TOPMED)
C=0.000134/17
(GnomAD)
- HGVS:
11.
rs1491316338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 16:20061059
(GRCh38)
16:20072382
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20061059:T:TGT
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00001/1
(GnomAD)
- HGVS:
12.
rs1491292579 has merged into rs58567910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 16:20061075
(GRCh38)
16:20072397
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:20061061:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.0034/13
(ALSPAC)
- HGVS:
NC_000016.10:g.20061063GT[6], NC_000016.10:g.20061063GT[7], NC_000016.10:g.20061063GT[8], NC_000016.10:g.20061063GT[9], NC_000016.10:g.20061063GT[10], NC_000016.10:g.20061063GT[12], NC_000016.10:g.20061063GT[13], NC_000016.10:g.20061063GT[14], NC_000016.9:g.20072385GT[6], NC_000016.9:g.20072385GT[7], NC_000016.9:g.20072385GT[8], NC_000016.9:g.20072385GT[9], NC_000016.9:g.20072385GT[10], NC_000016.9:g.20072385GT[12], NC_000016.9:g.20072385GT[13], NC_000016.9:g.20072385GT[14]
13.
rs1491259608 has merged into rs10534277 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:20068244
(GRCh38)
16:20079566
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20068236:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.20068244_20068258del, NC_000016.10:g.20068245_20068258del, NC_000016.10:g.20068246_20068258del, NC_000016.10:g.20068248_20068258del, NC_000016.10:g.20068249_20068258del, NC_000016.10:g.20068251_20068258del, NC_000016.10:g.20068252_20068258del, NC_000016.10:g.20068253_20068258del, NC_000016.10:g.20068254_20068258del, NC_000016.10:g.20068255_20068258del, NC_000016.10:g.20068256_20068258del, NC_000016.10:g.20068257_20068258del, NC_000016.10:g.20068258del, NC_000016.10:g.20068258dup, NC_000016.10:g.20068257_20068258dup, NC_000016.10:g.20068256_20068258dup, NC_000016.10:g.20068255_20068258dup, NC_000016.10:g.20068254_20068258dup, NC_000016.10:g.20068253_20068258dup, NC_000016.10:g.20068252_20068258dup, NC_000016.10:g.20068251_20068258dup, NC_000016.10:g.20068250_20068258dup, NC_000016.10:g.20068249_20068258dup, NC_000016.10:g.20068237_20068258A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20079566_20079580del, NC_000016.9:g.20079567_20079580del, NC_000016.9:g.20079568_20079580del, NC_000016.9:g.20079570_20079580del, NC_000016.9:g.20079571_20079580del, NC_000016.9:g.20079573_20079580del, NC_000016.9:g.20079574_20079580del, NC_000016.9:g.20079575_20079580del, NC_000016.9:g.20079576_20079580del, NC_000016.9:g.20079577_20079580del, NC_000016.9:g.20079578_20079580del, NC_000016.9:g.20079579_20079580del, NC_000016.9:g.20079580del, NC_000016.9:g.20079580dup, NC_000016.9:g.20079579_20079580dup, NC_000016.9:g.20079578_20079580dup, NC_000016.9:g.20079577_20079580dup, NC_000016.9:g.20079576_20079580dup, NC_000016.9:g.20079575_20079580dup, NC_000016.9:g.20079574_20079580dup, NC_000016.9:g.20079573_20079580dup, NC_000016.9:g.20079572_20079580dup, NC_000016.9:g.20079571_20079580dup, NC_000016.9:g.20079559_20079580A[26]GAAAAAAAAAAAAAAAAAAAAAAA[1]
14.
rs1491253621 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATGGATG
[Show Flanks]
- Chromosome:
- 16:20061214
(GRCh38)
16:20072537
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20061214:ATGGATG:ATGGATGTATGGATG
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATGGATGTATGGATG=0./0
(
ALFA)
ATGGATGT=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491078982 has merged into rs71146301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 16:20073302
(GRCh38)
16:20084624
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20073290:CACACACACACACAC:CACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACACAC,NC_000016.10:20073290:CACACACACACACAC:CACACACACACACACACACACACAC
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACAC=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
CA=0.200679/1005
(1000Genomes)
CA=0.24255/4062
(TOMMO)
CA=0.325/13
(GENOME_DK)
CA=0.365/219
(NorthernSweden)
- HGVS:
17.
rs1491036543 has merged into rs35022647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 16:20038039
(GRCh38)
16:20049361
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:20038027:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4257/1781
(1000Genomes)
- HGVS:
18.
rs1491018467 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT
[Show Flanks]
- Chromosome:
- 16:20072472
(GRCh38)
16:20083794
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20072468:TCTCTCT:TCT,NC_000016.10:20072468:TCTCTCT:TCTCT
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490888391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:20075462
(GRCh38)
16:20086784
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20075461:G:C
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490867391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:20060884
(GRCh38)
16:20072206
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20060883:T:C
- Gene:
- GPR139 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000053/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000107/15
(GnomAD)
C=0.000156/1
(1000Genomes)
C=0.000223/1
(Estonian)
- HGVS: