Links from Gene
Items: 1 to 20 of 1000
4.
rs1491390432 has merged into rs56259205 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:914593
(GRCh38)
19:914593
(GRCh37)
- Canonical SPDI:
- NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000019.10:g.914593_914608del, NC_000019.10:g.914594_914608del, NC_000019.10:g.914595_914608del, NC_000019.10:g.914596_914608del, NC_000019.10:g.914597_914608del, NC_000019.10:g.914598_914608del, NC_000019.10:g.914599_914608del, NC_000019.10:g.914600_914608del, NC_000019.10:g.914601_914608del, NC_000019.10:g.914602_914608del, NC_000019.10:g.914603_914608del, NC_000019.10:g.914604_914608del, NC_000019.10:g.914605_914608del, NC_000019.10:g.914606_914608del, NC_000019.10:g.914607_914608del, NC_000019.10:g.914608del, NC_000019.10:g.914608dup, NC_000019.10:g.914607_914608dup, NC_000019.10:g.914606_914608dup, NC_000019.10:g.914605_914608dup, NC_000019.10:g.914604_914608dup, NC_000019.10:g.914603_914608dup, NC_000019.9:g.914593_914608del, NC_000019.9:g.914594_914608del, NC_000019.9:g.914595_914608del, NC_000019.9:g.914596_914608del, NC_000019.9:g.914597_914608del, NC_000019.9:g.914598_914608del, NC_000019.9:g.914599_914608del, NC_000019.9:g.914600_914608del, NC_000019.9:g.914601_914608del, NC_000019.9:g.914602_914608del, NC_000019.9:g.914603_914608del, NC_000019.9:g.914604_914608del, NC_000019.9:g.914605_914608del, NC_000019.9:g.914606_914608del, NC_000019.9:g.914607_914608del, NC_000019.9:g.914608del, NC_000019.9:g.914608dup, NC_000019.9:g.914607_914608dup, NC_000019.9:g.914606_914608dup, NC_000019.9:g.914605_914608dup, NC_000019.9:g.914604_914608dup, NC_000019.9:g.914603_914608dup, NG_008277.1:g.2252_2267del, NG_008277.1:g.2253_2267del, NG_008277.1:g.2254_2267del, NG_008277.1:g.2255_2267del, NG_008277.1:g.2256_2267del, NG_008277.1:g.2257_2267del, NG_008277.1:g.2258_2267del, NG_008277.1:g.2259_2267del, NG_008277.1:g.2260_2267del, NG_008277.1:g.2261_2267del, NG_008277.1:g.2262_2267del, NG_008277.1:g.2263_2267del, NG_008277.1:g.2264_2267del, NG_008277.1:g.2265_2267del, NG_008277.1:g.2266_2267del, NG_008277.1:g.2267del, NG_008277.1:g.2267dup, NG_008277.1:g.2266_2267dup, NG_008277.1:g.2265_2267dup, NG_008277.1:g.2264_2267dup, NG_008277.1:g.2263_2267dup, NG_008277.1:g.2262_2267dup
5.
rs1491371915 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:914582
(GRCh38)
19:914582
(GRCh37)
- Canonical SPDI:
- NC_000019.10:914581:CA:
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00084/10
(
ALFA)
-=0.00087/22
(TOMMO)
- HGVS:
6.
rs1491284783 has merged into rs67161788 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:898411
(GRCh38)
19:898411
(GRCh37)
- Canonical SPDI:
- NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3494/1750
(1000Genomes)
- HGVS:
NC_000019.10:g.898411_898422del, NC_000019.10:g.898415_898422del, NC_000019.10:g.898416_898422del, NC_000019.10:g.898417_898422del, NC_000019.10:g.898418_898422del, NC_000019.10:g.898419_898422del, NC_000019.10:g.898420_898422del, NC_000019.10:g.898421_898422del, NC_000019.10:g.898422del, NC_000019.10:g.898422dup, NC_000019.9:g.898411_898422del, NC_000019.9:g.898415_898422del, NC_000019.9:g.898416_898422del, NC_000019.9:g.898417_898422del, NC_000019.9:g.898418_898422del, NC_000019.9:g.898419_898422del, NC_000019.9:g.898420_898422del, NC_000019.9:g.898421_898422del, NC_000019.9:g.898422del, NC_000019.9:g.898422dup
8.
rs1491088575 has merged into rs1555720572 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA
[Show Flanks]
- Chromosome:
- 19:898245
(GRCh38)
19:898245
(GRCh37)
- Canonical SPDI:
- NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATATATATA
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATA=0.00111/18
(
ALFA)
- HGVS:
9.
rs1491004470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:903236
(GRCh38)
19:903237
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903236:G:GG
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490870447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:912863
(GRCh38)
19:912863
(GRCh37)
- Canonical SPDI:
- NC_000019.10:912862:C:G
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490675008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 19:912658
(GRCh38)
19:912658
(GRCh37)
- Canonical SPDI:
- NC_000019.10:912657:A:G,NC_000019.10:912657:A:T
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0./0
(SGDP_PRJ)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490464221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:910851
(GRCh38)
19:910851
(GRCh37)
- Canonical SPDI:
- NC_000019.10:910850:G:A
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
13.
rs1490449437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:912157
(GRCh38)
19:912157
(GRCh37)
- Canonical SPDI:
- NC_000019.10:912156:C:G
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.01088/129
(
ALFA)
G=0.00034/3
(GnomAD)
C=0.4/4
(SGDP_PRJ)
- HGVS:
14.
rs1490034064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCCCCCTCCAG
[Show Flanks]
- Chromosome:
- 19:903295
(GRCh38)
19:903296
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903295:GGCCCCCCTCCAG:GGCCCCCCTCCAGGCCCCCCTCCAG
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGCCCCCCTCCAGGCCCCCCTCCAG=0.000142/2
(
ALFA)
GGCCCCCCTCCA=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489974306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:910022
(GRCh38)
19:910022
(GRCh37)
- Canonical SPDI:
- NC_000019.10:910021:C:T
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.001592/27
(TOMMO)
T=0.002738/8
(KOREAN)
T=0.003821/7
(Korea1K)
- HGVS:
16.
rs1489871082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:903512
(GRCh38)
19:903512
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903511:G:T
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489828335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:903048
(GRCh38)
19:903048
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903047:G:A
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489617349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:913325
(GRCh38)
19:913325
(GRCh37)
- Canonical SPDI:
- NC_000019.10:913324:G:C
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489562368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:903562
(GRCh38)
19:903562
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903561:G:A
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489490498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:903058
(GRCh38)
19:903058
(GRCh37)
- Canonical SPDI:
- NC_000019.10:903057:A:G
- Gene:
- R3HDM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: