Links from Gene
Items: 1 to 20 of 1000
1.
rs1491162464 has merged into rs60823341 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:67385451
(GRCh38)
14:67852168
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:67385439:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.0688/255
(TWINSUK)
-=0.0755/291
(ALSPAC)
-=0.3938/1972
(1000Genomes)
- HGVS:
NC_000014.9:g.67385451_67385456del, NC_000014.9:g.67385452_67385456del, NC_000014.9:g.67385453_67385456del, NC_000014.9:g.67385454_67385456del, NC_000014.9:g.67385455_67385456del, NC_000014.9:g.67385456del, NC_000014.9:g.67385456dup, NC_000014.9:g.67385455_67385456dup, NC_000014.9:g.67385454_67385456dup, NC_000014.9:g.67385450_67385456dup, NC_000014.8:g.67852168_67852173del, NC_000014.8:g.67852169_67852173del, NC_000014.8:g.67852170_67852173del, NC_000014.8:g.67852171_67852173del, NC_000014.8:g.67852172_67852173del, NC_000014.8:g.67852173del, NC_000014.8:g.67852173dup, NC_000014.8:g.67852172_67852173dup, NC_000014.8:g.67852171_67852173dup, NC_000014.8:g.67852167_67852173dup, NM_004094.5:c.*2011_*2016del, NM_004094.5:c.*2012_*2016del, NM_004094.5:c.*2013_*2016del, NM_004094.5:c.*2014_*2016del, NM_004094.5:c.*2015_*2016del, NM_004094.5:c.*2016del, NM_004094.5:c.*2016dup, NM_004094.5:c.*2015_*2016dup, NM_004094.5:c.*2014_*2016dup, NM_004094.5:c.*2010_*2016dup, NM_004094.4:c.*2011_*2016del, NM_004094.4:c.*2012_*2016del, NM_004094.4:c.*2013_*2016del, NM_004094.4:c.*2014_*2016del, NM_004094.4:c.*2015_*2016del, NM_004094.4:c.*2016del, NM_004094.4:c.*2016dup, NM_004094.4:c.*2015_*2016dup, NM_004094.4:c.*2014_*2016dup, NM_004094.4:c.*2010_*2016dup
2.
rs1491089223 has merged into rs552951257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 14:67366094
(GRCh38)
14:67832811
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:67366081:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.02/12
(NorthernSweden)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000014.9:g.67366094_67366098del, NC_000014.9:g.67366095_67366098del, NC_000014.9:g.67366096_67366098del, NC_000014.9:g.67366097_67366098del, NC_000014.9:g.67366098del, NC_000014.9:g.67366098dup, NC_000014.9:g.67366097_67366098dup, NC_000014.9:g.67366096_67366098dup, NC_000014.8:g.67832811_67832815del, NC_000014.8:g.67832812_67832815del, NC_000014.8:g.67832813_67832815del, NC_000014.8:g.67832814_67832815del, NC_000014.8:g.67832815del, NC_000014.8:g.67832815dup, NC_000014.8:g.67832814_67832815dup, NC_000014.8:g.67832813_67832815dup
3.
rs1491004870 has merged into rs541791101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:67379661
(GRCh38)
14:67846378
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67379654:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
-=0.02859/143
(1000Genomes)
- HGVS:
NC_000014.9:g.67379661_67379672del, NC_000014.9:g.67379664_67379672del, NC_000014.9:g.67379665_67379672del, NC_000014.9:g.67379666_67379672del, NC_000014.9:g.67379667_67379672del, NC_000014.9:g.67379668_67379672del, NC_000014.9:g.67379669_67379672del, NC_000014.9:g.67379670_67379672del, NC_000014.9:g.67379671_67379672del, NC_000014.9:g.67379672del, NC_000014.9:g.67379672dup, NC_000014.9:g.67379671_67379672dup, NC_000014.9:g.67379670_67379672dup, NC_000014.9:g.67379669_67379672dup, NC_000014.9:g.67379668_67379672dup, NC_000014.9:g.67379667_67379672dup, NC_000014.9:g.67379666_67379672dup, NC_000014.9:g.67379665_67379672dup, NC_000014.9:g.67379664_67379672dup, NC_000014.9:g.67379663_67379672dup, NC_000014.9:g.67379662_67379672dup, NC_000014.9:g.67379661_67379672dup, NC_000014.9:g.67379660_67379672dup, NC_000014.9:g.67379659_67379672dup, NC_000014.9:g.67379656_67379672dup, NC_000014.9:g.67379655_67379672dup, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.67379672_67379673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846378_67846389del, NC_000014.8:g.67846381_67846389del, NC_000014.8:g.67846382_67846389del, NC_000014.8:g.67846383_67846389del, NC_000014.8:g.67846384_67846389del, NC_000014.8:g.67846385_67846389del, NC_000014.8:g.67846386_67846389del, NC_000014.8:g.67846387_67846389del, NC_000014.8:g.67846388_67846389del, NC_000014.8:g.67846389del, NC_000014.8:g.67846389dup, NC_000014.8:g.67846388_67846389dup, NC_000014.8:g.67846387_67846389dup, NC_000014.8:g.67846386_67846389dup, NC_000014.8:g.67846385_67846389dup, NC_000014.8:g.67846384_67846389dup, NC_000014.8:g.67846383_67846389dup, NC_000014.8:g.67846382_67846389dup, NC_000014.8:g.67846381_67846389dup, NC_000014.8:g.67846380_67846389dup, NC_000014.8:g.67846379_67846389dup, NC_000014.8:g.67846378_67846389dup, NC_000014.8:g.67846377_67846389dup, NC_000014.8:g.67846376_67846389dup, NC_000014.8:g.67846373_67846389dup, NC_000014.8:g.67846372_67846389dup, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.67846389_67846390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1490982862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:67385126
(GRCh38)
14:67851843
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67385125:T:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490948012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 14:67386968
(GRCh38)
14:67853685
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67386964:AAGAAG:AAG
- Gene:
- EIF2S1 (Varview), GPHN (Varview), PLEK2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAG=0.000071/1
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
6.
rs1490741374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:67367555
(GRCh38)
14:67834272
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67367554:T:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490739644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:67376838
(GRCh38)
14:67843555
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67376837:T:C
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490723845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:67378104
(GRCh38)
14:67844821
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67378102:ACA:A
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490679661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:67361591
(GRCh38)
14:67828308
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67361590:T:C
- Gene:
- EIF2S1 (Varview), GPHN (Varview), ATP6V1D (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
10.
rs1490501554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:67360985
(GRCh38)
14:67827702
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67360984:A:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview), ATP6V1D (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
11.
rs1490451609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:67366460
(GRCh38)
14:67833177
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67366459:G:A
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1490352675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:67386195
(GRCh38)
14:67852912
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67386194:C:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490252300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:67376120
(GRCh38)
14:67842837
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67376119:C:G,NC_000014.9:67376119:C:T
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490174903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:67361441
(GRCh38)
14:67828158
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67361440:T:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview), ATP6V1D (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000029/4
(GnomAD)
- HGVS:
15.
rs1489860247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:67385750
(GRCh38)
14:67852467
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67385749:G:A
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489834638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:67384960
(GRCh38)
14:67851677
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67384959:G:A
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489802871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:67386025
(GRCh38)
14:67852742
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67386024:G:T
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489673784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:67383271
(GRCh38)
14:67849988
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67383270:A:G
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
19.
rs1489657855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:67381532
(GRCh38)
14:67848249
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67381531:C:A
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489555223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:67379901
(GRCh38)
14:67846618
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67379900:G:A,NC_000014.9:67379900:G:T
- Gene:
- EIF2S1 (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS: