Links from Gene
Items: 1 to 20 of 4910
2.
rs1491395578 has merged into rs57701626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:2521793
(GRCh38)
16:2571794
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:2521781:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.2521793_2521801del, NC_000016.10:g.2521794_2521801del, NC_000016.10:g.2521795_2521801del, NC_000016.10:g.2521797_2521801del, NC_000016.10:g.2521798_2521801del, NC_000016.10:g.2521799_2521801del, NC_000016.10:g.2521800_2521801del, NC_000016.10:g.2521801del, NC_000016.10:g.2521801dup, NC_000016.10:g.2521800_2521801dup, NC_000016.10:g.2521799_2521801dup, NC_000016.10:g.2521798_2521801dup, NC_000016.10:g.2521797_2521801dup, NC_000016.10:g.2521796_2521801dup, NC_000016.10:g.2521795_2521801dup, NC_000016.10:g.2521794_2521801dup, NC_000016.10:g.2521792_2521801dup, NC_000016.10:g.2521783_2521801dup, NC_000016.10:g.2521801_2521802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.2571794_2571802del, NC_000016.9:g.2571795_2571802del, NC_000016.9:g.2571796_2571802del, NC_000016.9:g.2571798_2571802del, NC_000016.9:g.2571799_2571802del, NC_000016.9:g.2571800_2571802del, NC_000016.9:g.2571801_2571802del, NC_000016.9:g.2571802del, NC_000016.9:g.2571802dup, NC_000016.9:g.2571801_2571802dup, NC_000016.9:g.2571800_2571802dup, NC_000016.9:g.2571799_2571802dup, NC_000016.9:g.2571798_2571802dup, NC_000016.9:g.2571797_2571802dup, NC_000016.9:g.2571796_2571802dup, NC_000016.9:g.2571795_2571802dup, NC_000016.9:g.2571793_2571802dup, NC_000016.9:g.2571784_2571802dup, NC_000016.9:g.2571802_2571803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491352495 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 16:2528913
(GRCh38)
16:2578914
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2528912:AG:
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491183554 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:2522860
(GRCh38)
16:2572862
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2522860::G
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000253/3
(
ALFA)
G=0.000395/55
(GnomAD)
- HGVS:
5.
rs1491143395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GGG
[Show Flanks]
- Chromosome:
- 16:2528914
(GRCh38)
16:2578915
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2528913:GGG:GG,NC_000016.10:2528913:GGG:GGGGG
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
GG=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491035172 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 16:2521780
(GRCh38)
16:2571781
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2521779:AG:
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490894785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2518969
(GRCh38)
16:2568970
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2518968:G:A
- Gene:
- ATP6V0C (Varview), AMDHD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,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:
8.
rs1490762984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2522063
(GRCh38)
16:2572064
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2522062:C:T
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490703912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2520028
(GRCh38)
16:2570029
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2520027:G:A
- Gene:
- ATP6V0C (Varview), AMDHD2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490671646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTC>-
[Show Flanks]
- Chromosome:
- 16:2524141
(GRCh38)
16:2574142
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2524139:CTTTTC:C
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490598275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2522720
(GRCh38)
16:2572721
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2522719:G:A
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490539690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:2519670
(GRCh38)
16:2569671
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2519669:G:C
- Gene:
- ATP6V0C (Varview), AMDHD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1490373224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2522080
(GRCh38)
16:2572081
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2522079:G:A
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
14.
rs1490248441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGGGG
[Show Flanks]
- Chromosome:
- 16:2520240
(GRCh38)
16:2570242
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2520240:GTTGGGG:GTTGGGGTTGGGG
- Gene:
- ATP6V0C (Varview), AMDHD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTTGGGGTTGGGG=0./0
(
ALFA)
GTTGGG=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489447766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2528486
(GRCh38)
16:2578487
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2528485:G:A
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.2528486G>A, NC_000016.9:g.2578487G>A, NM_015944.4:c.897G>A, NM_015944.3:c.897G>A, XM_017023267.3:c.189G>A, XM_017023267.2:c.189G>A, XM_017023267.1:c.189G>A, XM_017023264.3:c.897G>A, XM_017023266.3:c.408G>A, XM_017023266.2:c.408G>A, XM_017023266.1:c.408G>A, NM_001330449.2:c.897G>A, NM_001330449.1:c.897G>A, NM_001145815.2:c.897G>A, NM_001145815.1:c.897G>A, NM_001410943.1:c.897G>A, XM_047434190.1:c.408G>A
18.
rs1488664452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:2527778
(GRCh38)
16:2577779
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2527777:C:T
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000028/6
(GnomAD_exomes)
T=0.000029/4
(GnomAD)
- HGVS:
NC_000016.10:g.2527778C>T, NC_000016.9:g.2577779C>T, NM_015944.4:c.421C>T, NM_015944.3:c.421C>T, XM_017023267.3:c.-288C>T, XM_017023267.2:c.-288C>T, XM_017023267.1:c.-288C>T, XM_017023264.3:c.421C>T, NM_001330449.2:c.421C>T, NM_001330449.1:c.421C>T, NM_001145815.2:c.421C>T, NM_001145815.1:c.421C>T, NM_001410943.1:c.421C>T, NP_057028.2:p.His141Tyr, XP_016878753.1:p.His141Tyr, NP_001317378.1:p.His141Tyr, NP_001139287.1:p.His141Tyr
19.
rs1488633154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:2528311
(GRCh38)
16:2578312
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2528310:G:A
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.2528311G>A, NC_000016.9:g.2578312G>A, NM_015944.4:c.793G>A, NM_015944.3:c.793G>A, XM_017023267.3:c.85G>A, XM_017023267.2:c.85G>A, XM_017023267.1:c.85G>A, XM_017023264.3:c.793G>A, XM_017023266.3:c.304G>A, XM_017023266.2:c.304G>A, XM_017023266.1:c.304G>A, NM_001330449.2:c.793G>A, NM_001330449.1:c.793G>A, NM_001145815.2:c.793G>A, NM_001145815.1:c.793G>A, NM_001410943.1:c.793G>A, XM_047434190.1:c.304G>A, NP_057028.2:p.Gly265Arg, XP_016878756.1:p.Gly29Arg, XP_016878753.1:p.Gly265Arg, XP_016878755.1:p.Gly102Arg, NP_001317378.1:p.Gly265Arg, NP_001139287.1:p.Gly265Arg, XP_047290146.1:p.Gly102Arg
20.
rs1488471617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:2522741
(GRCh38)
16:2572742
(GRCh37)
- Canonical SPDI:
- NC_000016.10:2522740:C:A,NC_000016.10:2522740:C:T
- Gene:
- AMDHD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: