Links from Gene
Items: 1 to 20 of 1371
1.
rs1491337619 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 17:38676562
(GRCh38)
17:36832816
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676562:C:CGC
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CGC=0./0
(
ALFA)
CG=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491152691 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 17:38676607
(GRCh38)
17:36832860
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676606:CG:
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491096323 has merged into rs58710993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 17:38676586
(GRCh38)
17:36832839
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- EPOP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.38676562AC[12], NC_000017.11:g.38676562AC[13], NC_000017.11:g.38676562AC[14], NC_000017.11:g.38676562AC[15], NC_000017.11:g.38676562AC[16], NC_000017.11:g.38676562AC[17], NC_000017.11:g.38676562AC[18], NC_000017.11:g.38676562AC[19], NC_000017.11:g.38676562AC[20], NC_000017.11:g.38676562AC[21], NC_000017.11:g.38676562AC[22], NC_000017.11:g.38676562AC[24], NC_000017.11:g.38676562AC[25], NC_000017.11:g.38676562AC[26], NC_000017.11:g.38676562AC[27], NC_000017.11:g.38676562AC[28], NC_000017.11:g.38676562AC[29], NC_000017.11:g.38676562AC[30], NC_000017.11:g.38676562AC[31], NC_000017.11:g.38676562AC[32], NC_000017.11:g.38676562AC[33], NC_000017.11:g.38676562AC[34], NC_000017.10:g.36832815AC[12], NC_000017.10:g.36832815AC[13], NC_000017.10:g.36832815AC[14], NC_000017.10:g.36832815AC[15], NC_000017.10:g.36832815AC[16], NC_000017.10:g.36832815AC[17], NC_000017.10:g.36832815AC[18], NC_000017.10:g.36832815AC[19], NC_000017.10:g.36832815AC[20], NC_000017.10:g.36832815AC[21], NC_000017.10:g.36832815AC[22], NC_000017.10:g.36832815AC[24], NC_000017.10:g.36832815AC[25], NC_000017.10:g.36832815AC[26], NC_000017.10:g.36832815AC[27], NC_000017.10:g.36832815AC[28], NC_000017.10:g.36832815AC[29], NC_000017.10:g.36832815AC[30], NC_000017.10:g.36832815AC[31], NC_000017.10:g.36832815AC[32], NC_000017.10:g.36832815AC[33], NC_000017.10:g.36832815AC[34], NT_187614.1:g.2711881AC[12], NT_187614.1:g.2711881AC[13], NT_187614.1:g.2711881AC[14], NT_187614.1:g.2711881AC[15], NT_187614.1:g.2711881AC[16], NT_187614.1:g.2711881AC[17], NT_187614.1:g.2711881AC[18], NT_187614.1:g.2711881AC[19], NT_187614.1:g.2711881AC[20], NT_187614.1:g.2711881AC[21], NT_187614.1:g.2711881AC[22], NT_187614.1:g.2711881AC[24], NT_187614.1:g.2711881AC[25], NT_187614.1:g.2711881AC[26], NT_187614.1:g.2711881AC[27], NT_187614.1:g.2711881AC[28], NT_187614.1:g.2711881AC[29], NT_187614.1:g.2711881AC[30], NT_187614.1:g.2711881AC[31], NT_187614.1:g.2711881AC[32], NT_187614.1:g.2711881AC[33], NT_187614.1:g.2711881AC[34]
4.
rs1490966345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:38672382
(GRCh38)
17:36828635
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38672381:T:G
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489633331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:38673844
(GRCh38)
17:36830097
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38673843:C:A
- Gene:
- EPOP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.00001/1
(GnomAD_exomes)
- HGVS:
6.
rs1489521673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:38671437
(GRCh38)
17:36827690
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38671436:C:G
- Gene:
- EPOP (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489068547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:38674431
(GRCh38)
17:36830684
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38674430:G:A
- Gene:
- EPOP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488191842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38674284
(GRCh38)
17:36830537
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38674283:C:T
- Gene:
- EPOP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1488144720 has merged into rs58710993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 17:38676586
(GRCh38)
17:36832839
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38676561:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- EPOP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.38676562AC[12], NC_000017.11:g.38676562AC[13], NC_000017.11:g.38676562AC[14], NC_000017.11:g.38676562AC[15], NC_000017.11:g.38676562AC[16], NC_000017.11:g.38676562AC[17], NC_000017.11:g.38676562AC[18], NC_000017.11:g.38676562AC[19], NC_000017.11:g.38676562AC[20], NC_000017.11:g.38676562AC[21], NC_000017.11:g.38676562AC[22], NC_000017.11:g.38676562AC[24], NC_000017.11:g.38676562AC[25], NC_000017.11:g.38676562AC[26], NC_000017.11:g.38676562AC[27], NC_000017.11:g.38676562AC[28], NC_000017.11:g.38676562AC[29], NC_000017.11:g.38676562AC[30], NC_000017.11:g.38676562AC[31], NC_000017.11:g.38676562AC[32], NC_000017.11:g.38676562AC[33], NC_000017.11:g.38676562AC[34], NC_000017.10:g.36832815AC[12], NC_000017.10:g.36832815AC[13], NC_000017.10:g.36832815AC[14], NC_000017.10:g.36832815AC[15], NC_000017.10:g.36832815AC[16], NC_000017.10:g.36832815AC[17], NC_000017.10:g.36832815AC[18], NC_000017.10:g.36832815AC[19], NC_000017.10:g.36832815AC[20], NC_000017.10:g.36832815AC[21], NC_000017.10:g.36832815AC[22], NC_000017.10:g.36832815AC[24], NC_000017.10:g.36832815AC[25], NC_000017.10:g.36832815AC[26], NC_000017.10:g.36832815AC[27], NC_000017.10:g.36832815AC[28], NC_000017.10:g.36832815AC[29], NC_000017.10:g.36832815AC[30], NC_000017.10:g.36832815AC[31], NC_000017.10:g.36832815AC[32], NC_000017.10:g.36832815AC[33], NC_000017.10:g.36832815AC[34], NT_187614.1:g.2711881AC[12], NT_187614.1:g.2711881AC[13], NT_187614.1:g.2711881AC[14], NT_187614.1:g.2711881AC[15], NT_187614.1:g.2711881AC[16], NT_187614.1:g.2711881AC[17], NT_187614.1:g.2711881AC[18], NT_187614.1:g.2711881AC[19], NT_187614.1:g.2711881AC[20], NT_187614.1:g.2711881AC[21], NT_187614.1:g.2711881AC[22], NT_187614.1:g.2711881AC[24], NT_187614.1:g.2711881AC[25], NT_187614.1:g.2711881AC[26], NT_187614.1:g.2711881AC[27], NT_187614.1:g.2711881AC[28], NT_187614.1:g.2711881AC[29], NT_187614.1:g.2711881AC[30], NT_187614.1:g.2711881AC[31], NT_187614.1:g.2711881AC[32], NT_187614.1:g.2711881AC[33], NT_187614.1:g.2711881AC[34]
10.
rs1487989083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:38676340
(GRCh38)
17:36832594
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676340:CCCCC:CCCCCC
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487842380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38673935
(GRCh38)
17:36830188
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38673934:C:T
- Gene:
- EPOP (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000212/4
(TOMMO)
- HGVS:
12.
rs1487627545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:38673322
(GRCh38)
17:36829575
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38673321:T:C
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487556033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:38674892
(GRCh38)
17:36831145
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38674891:G:A,NC_000017.11:38674891:G:C
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1486310338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:38676775
(GRCh38)
17:36833028
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676774:A:G,NC_000017.11:38676774:A:T
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000083/22
(TOPMED)
- HGVS:
15.
rs1486277234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:38676187
(GRCh38)
17:36832440
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38676186:A:G
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1484964870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38674186
(GRCh38)
17:36830439
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38674185:C:T
- Gene:
- EPOP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.00004/1
(GnomAD_exomes)
- HGVS:
17.
rs1484946073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:38672356
(GRCh38)
17:36828609
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38672355:G:A
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484653515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:38671434
(GRCh38)
17:36827687
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38671433:C:A,NC_000017.11:38671433:C:G
- Gene:
- EPOP (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1484287970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:38673924
(GRCh38)
17:36830177
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38673923:G:C
- Gene:
- EPOP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1484230948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:38674707
(GRCh38)
17:36830960
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38674706:G:A
- Gene:
- EPOP (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: