Links from Gene
Items: 1 to 20 of 27968
1.
rs1491540003 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 7:30785269
(GRCh38)
7:30824885
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30785268:GA:
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491479764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:30831499
(GRCh38)
7:30871116
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30831499:GGGGGG:GGGGGGG
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491459868 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:30782341
(GRCh38)
7:30821958
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30782341::G
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00006/6
(GnomAD)
G=0.00064/11
(TOMMO)
- HGVS:
4.
rs1491400337 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 7:30860751
(GRCh38)
7:30900367
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30860750:GC:
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
5.
rs1491315893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:30829291
(GRCh38)
7:30868908
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30829291:C:CC
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000106/28
(TOPMED)
C=0.00017/17
(GnomAD)
- HGVS:
6.
rs1491280483 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:30831499
(GRCh38)
7:30871115
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30831498:AG:
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
7.
rs1491266703 has merged into rs573026878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:30877690
(GRCh38)
7:30917305
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:30877683:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.154752/775
(1000Genomes)
- HGVS:
NC_000007.14:g.30877690_30877699del, NC_000007.14:g.30877695_30877699del, NC_000007.14:g.30877696_30877699del, NC_000007.14:g.30877697_30877699del, NC_000007.14:g.30877698_30877699del, NC_000007.14:g.30877699del, NC_000007.14:g.30877699dup, NC_000007.14:g.30877698_30877699dup, NC_000007.14:g.30877697_30877699dup, NC_000007.14:g.30877696_30877699dup, NC_000007.14:g.30877695_30877699dup, NC_000007.13:g.30917305_30917314del, NC_000007.13:g.30917310_30917314del, NC_000007.13:g.30917311_30917314del, NC_000007.13:g.30917312_30917314del, NC_000007.13:g.30917313_30917314del, NC_000007.13:g.30917314del, NC_000007.13:g.30917314dup, NC_000007.13:g.30917313_30917314dup, NC_000007.13:g.30917312_30917314dup, NC_000007.13:g.30917311_30917314dup, NC_000007.13:g.30917310_30917314dup, NG_007475.2:g.29297_29306del, NG_007475.2:g.29302_29306del, NG_007475.2:g.29303_29306del, NG_007475.2:g.29304_29306del, NG_007475.2:g.29305_29306del, NG_007475.2:g.29306del, NG_007475.2:g.29306dup, NG_007475.2:g.29305_29306dup, NG_007475.2:g.29304_29306dup, NG_007475.2:g.29303_29306dup, NG_007475.2:g.29302_29306dup
8.
rs1491251061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT,CTTCT
[Show Flanks]
- Chromosome:
- 7:30877684
(GRCh38)
7:30917300
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30877684:T:TCT,NC_000007.14:30877684:T:TCTTCT
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTCT=0./0
(
ALFA)
TC=0.00004/1
(TOMMO)
TC=0.00134/93
(GnomAD)
- HGVS:
10.
rs1491234038 has merged into rs199507724 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:30812271
(GRCh38)
7:30851887
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30812269:GAG:G
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00177/21
(
ALFA)
-=0.00188/30
(TOMMO)
-=0.00395/187
(GnomAD)
-=0.01079/40
(TWINSUK)
- HGVS:
11.
rs1491227547 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:30860751
(GRCh38)
7:30900368
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30860751::T
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1491224894 has merged into rs3138796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACAC>-,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 7:30785278
(GRCh38)
7:30824894
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000007.14:30785269:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.30785270AC[4], NC_000007.14:g.30785270AC[9], NC_000007.14:g.30785270AC[10], NC_000007.14:g.30785270AC[11], NC_000007.14:g.30785270AC[12], NC_000007.14:g.30785270AC[13], NC_000007.14:g.30785270AC[14], NC_000007.14:g.30785270AC[15], NC_000007.14:g.30785270AC[17], NC_000007.14:g.30785270AC[18], NC_000007.14:g.30785270AC[19], NC_000007.14:g.30785270AC[20], NC_000007.14:g.30785270AC[21], NC_000007.14:g.30785270AC[22], NC_000007.13:g.30824886AC[4], NC_000007.13:g.30824886AC[9], NC_000007.13:g.30824886AC[10], NC_000007.13:g.30824886AC[11], NC_000007.13:g.30824886AC[12], NC_000007.13:g.30824886AC[13], NC_000007.13:g.30824886AC[14], NC_000007.13:g.30824886AC[15], NC_000007.13:g.30824886AC[17], NC_000007.13:g.30824886AC[18], NC_000007.13:g.30824886AC[19], NC_000007.13:g.30824886AC[20], NC_000007.13:g.30824886AC[21], NC_000007.13:g.30824886AC[22]
13.
rs1491101906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:30812284
(GRCh38)
7:30851900
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30812282:TAT:T
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.09709/360
(TWINSUK)
-=0.10275/396
(ALSPAC)
- HGVS:
14.
rs1491083549 has merged into rs60396175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:30828332
(GRCh38)
7:30867948
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:30828318:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.15828/610
(ALSPAC)
- HGVS:
NC_000007.14:g.30828320GT[6], NC_000007.14:g.30828320GT[7], NC_000007.14:g.30828320GT[8], NC_000007.14:g.30828320GT[9], NC_000007.14:g.30828320GT[10], NC_000007.14:g.30828320GT[11], NC_000007.14:g.30828320GT[12], NC_000007.14:g.30828320GT[13], NC_000007.14:g.30828320GT[14], NC_000007.14:g.30828320GT[16], NC_000007.14:g.30828320GT[17], NC_000007.14:g.30828320GT[18], NC_000007.14:g.30828320GT[19], NC_000007.14:g.30828320GT[20], NC_000007.14:g.30828320GT[21], NC_000007.14:g.30828320GT[22], NC_000007.14:g.30828320GT[23], NC_000007.13:g.30867936GT[6], NC_000007.13:g.30867936GT[7], NC_000007.13:g.30867936GT[8], NC_000007.13:g.30867936GT[9], NC_000007.13:g.30867936GT[10], NC_000007.13:g.30867936GT[11], NC_000007.13:g.30867936GT[12], NC_000007.13:g.30867936GT[13], NC_000007.13:g.30867936GT[14], NC_000007.13:g.30867936GT[16], NC_000007.13:g.30867936GT[17], NC_000007.13:g.30867936GT[18], NC_000007.13:g.30867936GT[19], NC_000007.13:g.30867936GT[20], NC_000007.13:g.30867936GT[21], NC_000007.13:g.30867936GT[22], NC_000007.13:g.30867936GT[23]
15.
rs1491069488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 7:30782371
(GRCh38)
7:30821988
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30782371:GC:GCGC
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCGC=0.000084/1
(
ALFA)
GC=0.000044/6
(GnomAD)
- HGVS:
16.
rs1491056675 has merged into rs58498956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATGTTTATAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATGTTTTTAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:30810185
(GRCh38)
7:30849801
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTATAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:30810174:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTTTAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.30810185_30810197del, NC_000007.14:g.30810186_30810197del, NC_000007.14:g.30810187_30810197del, NC_000007.14:g.30810188_30810197del, NC_000007.14:g.30810189_30810197del, NC_000007.14:g.30810190_30810197del, NC_000007.14:g.30810191_30810197del, NC_000007.14:g.30810192_30810197del, NC_000007.14:g.30810193_30810197del, NC_000007.14:g.30810194_30810197del, NC_000007.14:g.30810195_30810197del, NC_000007.14:g.30810196_30810197del, NC_000007.14:g.30810197del, NC_000007.14:g.30810197dup, NC_000007.14:g.30810196_30810197dup, NC_000007.14:g.30810195_30810197dup, NC_000007.14:g.30810194_30810197dup, NC_000007.14:g.30810193_30810197dup, NC_000007.14:g.30810192_30810197dup, NC_000007.14:g.30810191_30810197dup, NC_000007.14:g.30810190_30810197dup, NC_000007.14:g.30810189_30810197dup, NC_000007.14:g.30810188_30810197dup, NC_000007.14:g.30810187_30810197dup, NC_000007.14:g.30810185_30810197dup, NC_000007.14:g.30810180_30810197dup, NC_000007.14:g.30810175_30810197A[31]TGTTTATAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.30810175_30810197A[30]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.30810175_30810197A[27]TGTTTTTAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.30849801_30849813del, NC_000007.13:g.30849802_30849813del, NC_000007.13:g.30849803_30849813del, NC_000007.13:g.30849804_30849813del, NC_000007.13:g.30849805_30849813del, NC_000007.13:g.30849806_30849813del, NC_000007.13:g.30849807_30849813del, NC_000007.13:g.30849808_30849813del, NC_000007.13:g.30849809_30849813del, NC_000007.13:g.30849810_30849813del, NC_000007.13:g.30849811_30849813del, NC_000007.13:g.30849812_30849813del, NC_000007.13:g.30849813del, NC_000007.13:g.30849813dup, NC_000007.13:g.30849812_30849813dup, NC_000007.13:g.30849811_30849813dup, NC_000007.13:g.30849810_30849813dup, NC_000007.13:g.30849809_30849813dup, NC_000007.13:g.30849808_30849813dup, NC_000007.13:g.30849807_30849813dup, NC_000007.13:g.30849806_30849813dup, NC_000007.13:g.30849805_30849813dup, NC_000007.13:g.30849804_30849813dup, NC_000007.13:g.30849803_30849813dup, NC_000007.13:g.30849801_30849813dup, NC_000007.13:g.30849796_30849813dup, NC_000007.13:g.30849791_30849813A[31]TGTTTATAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.30849791_30849813A[30]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.30849791_30849813A[27]TGTTTTTAAAAAAAAAAAAAAAAAAAAAAAA[1]
17.
rs1491056265 has merged into rs57035996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 7:30810353
(GRCh38)
7:30849969
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:30810343:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.278954/1397
(1000Genomes)
- HGVS:
NC_000007.14:g.30810353_30810357del, NC_000007.14:g.30810354_30810357del, NC_000007.14:g.30810356_30810357del, NC_000007.14:g.30810357del, NC_000007.14:g.30810357dup, NC_000007.14:g.30810356_30810357dup, NC_000007.13:g.30849969_30849973del, NC_000007.13:g.30849970_30849973del, NC_000007.13:g.30849972_30849973del, NC_000007.13:g.30849973del, NC_000007.13:g.30849973dup, NC_000007.13:g.30849972_30849973dup
18.
rs1491038680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACCC,ACACCC
[Show Flanks]
- Chromosome:
- 7:30785300
(GRCh38)
7:30824917
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30785300:C:CACACACCC,NC_000007.14:30785300:C:CACACCC
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACCC=0./0
(
ALFA)
CACACC=0.000142/16
(GnomAD)
- HGVS:
19.
rs1490980719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:30827863
(GRCh38)
7:30867479
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30827862:G:A
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490926665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:30881683
(GRCh38)
7:30921298
(GRCh37)
- Canonical SPDI:
- NC_000007.14:30881682:G:A
- Gene:
- MINDY4 (Varview), INMT-MINDY4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: