Links from Gene
Items: 1 to 20 of 1304
2.
rs1489515590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:14616187
(GRCh38)
17:14519504
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14616186:A:G
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1488670051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:14618172
(GRCh38)
17:14521489
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14618171:C:T
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
5.
rs1487782111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:14618757
(GRCh38)
17:14522074
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14618756:A:G
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
6.
rs1487377084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14619113
(GRCh38)
17:14522430
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14619112:T:C
- Gene:
- LOC107984996 (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:
7.
rs1487242079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14617757
(GRCh38)
17:14521074
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14617756:T:C
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1485798344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:14618575
(GRCh38)
17:14521892
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14618574:A:G
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1483480535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:14617610
(GRCh38)
17:14520927
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14617609:A:T
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1482415389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:14616326
(GRCh38)
17:14519643
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14616325:G:A
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
11.
rs1482297976 has merged into rs57592028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:14615818
(GRCh38)
17:14519135
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:14615804:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.14615818_14615833del, NC_000017.11:g.14615819_14615833del, NC_000017.11:g.14615820_14615833del, NC_000017.11:g.14615822_14615833del, NC_000017.11:g.14615823_14615833del, NC_000017.11:g.14615824_14615833del, NC_000017.11:g.14615825_14615833del, NC_000017.11:g.14615826_14615833del, NC_000017.11:g.14615827_14615833del, NC_000017.11:g.14615828_14615833del, NC_000017.11:g.14615829_14615833del, NC_000017.11:g.14615830_14615833del, NC_000017.11:g.14615831_14615833del, NC_000017.11:g.14615832_14615833del, NC_000017.11:g.14615833del, NC_000017.11:g.14615833dup, NC_000017.11:g.14615832_14615833dup, NC_000017.11:g.14615831_14615833dup, NC_000017.11:g.14615830_14615833dup, NC_000017.11:g.14615829_14615833dup, NC_000017.11:g.14615828_14615833dup, NC_000017.11:g.14615827_14615833dup, NC_000017.11:g.14615826_14615833dup, NC_000017.11:g.14615825_14615833dup, NC_000017.11:g.14615824_14615833dup, NC_000017.11:g.14615823_14615833dup, NC_000017.11:g.14615822_14615833dup, NC_000017.11:g.14615821_14615833dup, NC_000017.11:g.14615820_14615833dup, NC_000017.11:g.14615819_14615833dup, NC_000017.11:g.14615818_14615833dup, NC_000017.11:g.14615817_14615833dup, NC_000017.11:g.14615816_14615833dup, NC_000017.11:g.14615815_14615833dup, NC_000017.11:g.14615814_14615833dup, NC_000017.11:g.14615812_14615833dup, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.14615833_14615834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519135_14519150del, NC_000017.10:g.14519136_14519150del, NC_000017.10:g.14519137_14519150del, NC_000017.10:g.14519139_14519150del, NC_000017.10:g.14519140_14519150del, NC_000017.10:g.14519141_14519150del, NC_000017.10:g.14519142_14519150del, NC_000017.10:g.14519143_14519150del, NC_000017.10:g.14519144_14519150del, NC_000017.10:g.14519145_14519150del, NC_000017.10:g.14519146_14519150del, NC_000017.10:g.14519147_14519150del, NC_000017.10:g.14519148_14519150del, NC_000017.10:g.14519149_14519150del, NC_000017.10:g.14519150del, NC_000017.10:g.14519150dup, NC_000017.10:g.14519149_14519150dup, NC_000017.10:g.14519148_14519150dup, NC_000017.10:g.14519147_14519150dup, NC_000017.10:g.14519146_14519150dup, NC_000017.10:g.14519145_14519150dup, NC_000017.10:g.14519144_14519150dup, NC_000017.10:g.14519143_14519150dup, NC_000017.10:g.14519142_14519150dup, NC_000017.10:g.14519141_14519150dup, NC_000017.10:g.14519140_14519150dup, NC_000017.10:g.14519139_14519150dup, NC_000017.10:g.14519138_14519150dup, NC_000017.10:g.14519137_14519150dup, NC_000017.10:g.14519136_14519150dup, NC_000017.10:g.14519135_14519150dup, NC_000017.10:g.14519134_14519150dup, NC_000017.10:g.14519133_14519150dup, NC_000017.10:g.14519132_14519150dup, NC_000017.10:g.14519131_14519150dup, NC_000017.10:g.14519129_14519150dup, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.14519150_14519151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1481354573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:14614427
(GRCh38)
17:14517744
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14614426:T:G
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1481280951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:14615382
(GRCh38)
17:14518699
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14615381:A:G
- Gene:
- LOC107984996 (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:
14.
rs1480404065 has merged into rs1415066594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 17:14615784
(GRCh38)
17:14519101
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14615783:TTTTTT:TTTTT,NC_000017.11:14615783:TTTTTT:TTTTTTT
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1480335356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:14616443
(GRCh38)
17:14519760
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14616442:G:A
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
17.
rs1479562029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14619460
(GRCh38)
17:14522777
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14619459:T:C
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1479364655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14616878
(GRCh38)
17:14520195
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14616877:T:C
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1478208948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:14619168
(GRCh38)
17:14522485
(GRCh37)
- Canonical SPDI:
- NC_000017.11:14619167:T:C
- Gene:
- LOC107984996 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: