Links from Gene
Items: 1 to 20 of 23885
2.
rs1491552275 has merged into rs59075081 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:58800845
(GRCh38)
15:59093044
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:58800834:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2196/1100
(1000Genomes)
- HGVS:
NC_000015.10:g.58800845_58800853del, NC_000015.10:g.58800847_58800853del, NC_000015.10:g.58800849_58800853del, NC_000015.10:g.58800850_58800853del, NC_000015.10:g.58800851_58800853del, NC_000015.10:g.58800852_58800853del, NC_000015.10:g.58800853del, NC_000015.10:g.58800853dup, NC_000015.9:g.59093044_59093052del, NC_000015.9:g.59093046_59093052del, NC_000015.9:g.59093048_59093052del, NC_000015.9:g.59093049_59093052del, NC_000015.9:g.59093050_59093052del, NC_000015.9:g.59093051_59093052del, NC_000015.9:g.59093052del, NC_000015.9:g.59093052dup
4.
rs1491523535 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:58844559
(GRCh38)
15:59136758
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58844558:CA:
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.11684/1386
(
ALFA)
-=0.0088/204
(GnomAD)
-=0.01275/358
(TOMMO)
- HGVS:
6.
rs1491472173 has merged into rs10719398 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:58848088
(GRCh38)
15:59140287
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:58848077:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0./0
(ALSPAC)
T=0./0
(TWINSUK)
T=0.09/54
(NorthernSweden)
-=0.4986/2497
(1000Genomes)
- HGVS:
NC_000015.10:g.58848088_58848093del, NC_000015.10:g.58848091_58848093del, NC_000015.10:g.58848092_58848093del, NC_000015.10:g.58848093del, NC_000015.10:g.58848093dup, NC_000015.10:g.58848084_58848093dup, NC_000015.9:g.59140287_59140292del, NC_000015.9:g.59140290_59140292del, NC_000015.9:g.59140291_59140292del, NC_000015.9:g.59140292del, NC_000015.9:g.59140292dup, NC_000015.9:g.59140283_59140292dup
7.
rs1491464786 has merged into rs61211927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 15:58831053
(GRCh38)
15:59123252
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58831041:TATATATATATATATATAT:TATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:58831041:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
TATATATATA=0.01505/9
(NorthernSweden)
- HGVS:
NC_000015.10:g.58831043AT[5], NC_000015.10:g.58831043AT[7], NC_000015.10:g.58831043AT[8], NC_000015.10:g.58831043AT[10], NC_000015.10:g.58831043AT[11], NC_000015.10:g.58831043AT[12], NC_000015.10:g.58831043AT[13], NC_000015.10:g.58831043AT[14], NC_000015.10:g.58831043AT[15], NC_000015.10:g.58831043AT[16], NC_000015.10:g.58831043AT[17], NC_000015.10:g.58831043AT[18], NC_000015.10:g.58831043AT[19], NC_000015.10:g.58831043AT[20], NC_000015.10:g.58831043AT[21], NC_000015.10:g.58831043AT[22], NC_000015.10:g.58831043AT[23], NC_000015.10:g.58831043AT[24], NC_000015.10:g.58831043AT[25], NC_000015.10:g.58831043AT[26], NC_000015.10:g.58831043AT[27], NC_000015.10:g.58831043AT[28], NC_000015.10:g.58831043AT[29], NC_000015.9:g.59123242AT[5], NC_000015.9:g.59123242AT[7], NC_000015.9:g.59123242AT[8], NC_000015.9:g.59123242AT[10], NC_000015.9:g.59123242AT[11], NC_000015.9:g.59123242AT[12], NC_000015.9:g.59123242AT[13], NC_000015.9:g.59123242AT[14], NC_000015.9:g.59123242AT[15], NC_000015.9:g.59123242AT[16], NC_000015.9:g.59123242AT[17], NC_000015.9:g.59123242AT[18], NC_000015.9:g.59123242AT[19], NC_000015.9:g.59123242AT[20], NC_000015.9:g.59123242AT[21], NC_000015.9:g.59123242AT[22], NC_000015.9:g.59123242AT[23], NC_000015.9:g.59123242AT[24], NC_000015.9:g.59123242AT[25], NC_000015.9:g.59123242AT[26], NC_000015.9:g.59123242AT[27], NC_000015.9:g.59123242AT[28], NC_000015.9:g.59123242AT[29]
8.
rs1491454037 has merged into rs34592774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:58844570
(GRCh38)
15:59136769
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58844559:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3892/1949
(1000Genomes)
- HGVS:
NC_000015.10:g.58844570_58844582del, NC_000015.10:g.58844572_58844582del, NC_000015.10:g.58844575_58844582del, NC_000015.10:g.58844576_58844582del, NC_000015.10:g.58844577_58844582del, NC_000015.10:g.58844578_58844582del, NC_000015.10:g.58844579_58844582del, NC_000015.10:g.58844580_58844582del, NC_000015.10:g.58844581_58844582del, NC_000015.10:g.58844582del, NC_000015.10:g.58844582dup, NC_000015.10:g.58844581_58844582dup, NC_000015.10:g.58844580_58844582dup, NC_000015.10:g.58844579_58844582dup, NC_000015.10:g.58844578_58844582dup, NC_000015.10:g.58844577_58844582dup, NC_000015.10:g.58844576_58844582dup, NC_000015.9:g.59136769_59136781del, NC_000015.9:g.59136771_59136781del, NC_000015.9:g.59136774_59136781del, NC_000015.9:g.59136775_59136781del, NC_000015.9:g.59136776_59136781del, NC_000015.9:g.59136777_59136781del, NC_000015.9:g.59136778_59136781del, NC_000015.9:g.59136779_59136781del, NC_000015.9:g.59136780_59136781del, NC_000015.9:g.59136781del, NC_000015.9:g.59136781dup, NC_000015.9:g.59136780_59136781dup, NC_000015.9:g.59136779_59136781dup, NC_000015.9:g.59136778_59136781dup, NC_000015.9:g.59136777_59136781dup, NC_000015.9:g.59136776_59136781dup, NC_000015.9:g.59136775_59136781dup
10.
rs1491434188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTG
[Show Flanks]
- Chromosome:
- 15:58773700
(GRCh38)
15:59065900
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58773700:G:GCTTG
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCTTG=0./0
(
ALFA)
GCTT=0.000029/4
(GnomAD)
- HGVS:
13.
rs1491348743 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:58846595
(GRCh38)
15:59138794
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58846594:CA:
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0392/465
(
ALFA)
-=0.00117/33
(TOMMO)
-=0.00575/206
(GnomAD)
- HGVS:
14.
rs1491325995 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGTGTGTGTGTGT,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,T,TGTGT
[Show Flanks]
- Chromosome:
- 15:58791620
(GRCh38)
15:59083820
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58791620:T:TCTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGT,NC_000015.10:58791620:T:TGTGT,NC_000015.10:58791620:T:TGTGTGT,NC_000015.10:58791620:T:TGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58791620:T:TT,NC_000015.10:58791620:T:TTGTGT
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.58791621_58791622insCTGTGTGTGTGTGT, NC_000015.10:g.58791621_58791622insGT, NC_000015.10:g.58791621_58791622insGTGT, NC_000015.10:g.58791622GT[3], NC_000015.10:g.58791622GT[4], NC_000015.10:g.58791622GT[5], NC_000015.10:g.58791622GT[6], NC_000015.10:g.58791622GT[7], NC_000015.10:g.58791622GT[8], NC_000015.10:g.58791622GT[9], NC_000015.10:g.58791622GT[10], NC_000015.10:g.58791622GT[11], NC_000015.10:g.58791622GT[12], NC_000015.10:g.58791621dup, NC_000015.10:g.58791621_58791622insTGTGT, NC_000015.9:g.59083820_59083821insCTGTGTGTGTGTGT, NC_000015.9:g.59083820_59083821insGT, NC_000015.9:g.59083820_59083821insGTGT, NC_000015.9:g.59083821GT[3], NC_000015.9:g.59083821GT[4], NC_000015.9:g.59083821GT[5], NC_000015.9:g.59083821GT[6], NC_000015.9:g.59083821GT[7], NC_000015.9:g.59083821GT[8], NC_000015.9:g.59083821GT[9], NC_000015.9:g.59083821GT[10], NC_000015.9:g.59083821GT[11], NC_000015.9:g.59083821GT[12], NC_000015.9:g.59083820dup, NC_000015.9:g.59083820_59083821insTGTGT
15.
rs1491294737 has merged into rs3985718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 15:58794375
(GRCh38)
15:59086574
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:58794358:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.58794359GT[8], NC_000015.10:g.58794359GT[10], NC_000015.10:g.58794359GT[11], NC_000015.10:g.58794359GT[12], NC_000015.10:g.58794359GT[13], NC_000015.10:g.58794359GT[14], NC_000015.10:g.58794359GT[15], NC_000015.10:g.58794359GT[16], NC_000015.10:g.58794359GT[17], NC_000015.10:g.58794359GT[18], NC_000015.10:g.58794359GT[20], NC_000015.10:g.58794359GT[21], NC_000015.10:g.58794359GT[22], NC_000015.10:g.58794359GT[23], NC_000015.10:g.58794359GT[24], NC_000015.10:g.58794359GT[25], NC_000015.10:g.58794359GT[26], NC_000015.10:g.58794359GT[27], NC_000015.10:g.58794359GT[28], NC_000015.10:g.58794359GT[29], NC_000015.10:g.58794359GT[30], NC_000015.9:g.59086558GT[8], NC_000015.9:g.59086558GT[10], NC_000015.9:g.59086558GT[11], NC_000015.9:g.59086558GT[12], NC_000015.9:g.59086558GT[13], NC_000015.9:g.59086558GT[14], NC_000015.9:g.59086558GT[15], NC_000015.9:g.59086558GT[16], NC_000015.9:g.59086558GT[17], NC_000015.9:g.59086558GT[18], NC_000015.9:g.59086558GT[20], NC_000015.9:g.59086558GT[21], NC_000015.9:g.59086558GT[22], NC_000015.9:g.59086558GT[23], NC_000015.9:g.59086558GT[24], NC_000015.9:g.59086558GT[25], NC_000015.9:g.59086558GT[26], NC_000015.9:g.59086558GT[27], NC_000015.9:g.59086558GT[28], NC_000015.9:g.59086558GT[29], NC_000015.9:g.59086558GT[30]
17.
rs1491268692 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTG
[Show Flanks]
- Chromosome:
- 15:58791623
(GRCh38)
15:59083823
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58791623:GTG:GTGCGTG
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGCGTG=0./0
(
ALFA)
GTGC=0.000008/2
(TOPMED)
- HGVS:
19.
rs1491231756 has merged into rs397719705 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:58785145
(GRCh38)
15:59077344
(GRCh37)
- Canonical SPDI:
- NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:58785135:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MINDY2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.58785145_58785158del, NC_000015.10:g.58785146_58785158del, NC_000015.10:g.58785147_58785158del, NC_000015.10:g.58785148_58785158del, NC_000015.10:g.58785149_58785158del, NC_000015.10:g.58785150_58785158del, NC_000015.10:g.58785151_58785158del, NC_000015.10:g.58785152_58785158del, NC_000015.10:g.58785153_58785158del, NC_000015.10:g.58785154_58785158del, NC_000015.10:g.58785155_58785158del, NC_000015.10:g.58785156_58785158del, NC_000015.10:g.58785157_58785158del, NC_000015.10:g.58785158del, NC_000015.10:g.58785158dup, NC_000015.10:g.58785157_58785158dup, NC_000015.10:g.58785156_58785158dup, NC_000015.10:g.58785155_58785158dup, NC_000015.10:g.58785154_58785158dup, NC_000015.10:g.58785153_58785158dup, NC_000015.10:g.58785152_58785158dup, NC_000015.10:g.58785151_58785158dup, NC_000015.10:g.58785150_58785158dup, NC_000015.10:g.58785149_58785158dup, NC_000015.10:g.58785148_58785158dup, NC_000015.10:g.58785147_58785158dup, NC_000015.10:g.58785146_58785158dup, NC_000015.10:g.58785145_58785158dup, NC_000015.10:g.58785144_58785158dup, NC_000015.10:g.58785143_58785158dup, NC_000015.10:g.58785142_58785158dup, NC_000015.10:g.58785138_58785158dup, NC_000015.10:g.58785158_58785159insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.59077344_59077357del, NC_000015.9:g.59077345_59077357del, NC_000015.9:g.59077346_59077357del, NC_000015.9:g.59077347_59077357del, NC_000015.9:g.59077348_59077357del, NC_000015.9:g.59077349_59077357del, NC_000015.9:g.59077350_59077357del, NC_000015.9:g.59077351_59077357del, NC_000015.9:g.59077352_59077357del, NC_000015.9:g.59077353_59077357del, NC_000015.9:g.59077354_59077357del, NC_000015.9:g.59077355_59077357del, NC_000015.9:g.59077356_59077357del, NC_000015.9:g.59077357del, NC_000015.9:g.59077357dup, NC_000015.9:g.59077356_59077357dup, NC_000015.9:g.59077355_59077357dup, NC_000015.9:g.59077354_59077357dup, NC_000015.9:g.59077353_59077357dup, NC_000015.9:g.59077352_59077357dup, NC_000015.9:g.59077351_59077357dup, NC_000015.9:g.59077350_59077357dup, NC_000015.9:g.59077349_59077357dup, NC_000015.9:g.59077348_59077357dup, NC_000015.9:g.59077347_59077357dup, NC_000015.9:g.59077346_59077357dup, NC_000015.9:g.59077345_59077357dup, NC_000015.9:g.59077344_59077357dup, NC_000015.9:g.59077343_59077357dup, NC_000015.9:g.59077342_59077357dup, NC_000015.9:g.59077341_59077357dup, NC_000015.9:g.59077337_59077357dup, NC_000015.9:g.59077357_59077358insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA