Links from Nucleotide
Items: 1 to 20 of 8306
1.
rs1491515629 has merged into rs57769136 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12171989
(GRCh38)
19:12282804
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12171978:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.12171989_12171995del, NC_000019.10:g.12171990_12171995del, NC_000019.10:g.12171991_12171995del, NC_000019.10:g.12171992_12171995del, NC_000019.10:g.12171993_12171995del, NC_000019.10:g.12171994_12171995del, NC_000019.10:g.12171995del, NC_000019.10:g.12171995dup, NC_000019.10:g.12171994_12171995dup, NC_000019.10:g.12171993_12171995dup, NC_000019.10:g.12171992_12171995dup, NC_000019.10:g.12171991_12171995dup, NC_000019.10:g.12171990_12171995dup, NC_000019.9:g.12282804_12282810del, NC_000019.9:g.12282805_12282810del, NC_000019.9:g.12282806_12282810del, NC_000019.9:g.12282807_12282810del, NC_000019.9:g.12282808_12282810del, NC_000019.9:g.12282809_12282810del, NC_000019.9:g.12282810del, NC_000019.9:g.12282810dup, NC_000019.9:g.12282809_12282810dup, NC_000019.9:g.12282808_12282810dup, NC_000019.9:g.12282807_12282810dup, NC_000019.9:g.12282806_12282810dup, NC_000019.9:g.12282805_12282810dup, NG_052983.1:g.13943_13949del, NG_052983.1:g.13944_13949del, NG_052983.1:g.13945_13949del, NG_052983.1:g.13946_13949del, NG_052983.1:g.13947_13949del, NG_052983.1:g.13948_13949del, NG_052983.1:g.13949del, NG_052983.1:g.13949dup, NG_052983.1:g.13948_13949dup, NG_052983.1:g.13947_13949dup, NG_052983.1:g.13946_13949dup, NG_052983.1:g.13945_13949dup, NG_052983.1:g.13944_13949dup
2.
rs1491409156 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:12184573
(GRCh38)
19:12295389
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12184573::T
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000057/8
(GnomAD)
- HGVS:
3.
rs1491219425 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:12159672
(GRCh38)
19:12270487
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12159671:AT:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00007/8
(GnomAD)
- HGVS:
4.
rs1491190048 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:12190731
(GRCh38)
19:12301546
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12190730:CA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00211/25
(
ALFA)
-=0.0014/38
(TOMMO)
- HGVS:
5.
rs1491102843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 19:12184277
(GRCh38)
19:12295092
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12184274:AGAG:AG
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491012095 has merged into rs386388563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12168066
(GRCh38)
19:12278881
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12168057:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.12168066_12168087del, NC_000019.10:g.12168069_12168087del, NC_000019.10:g.12168070_12168087del, NC_000019.10:g.12168071_12168087del, NC_000019.10:g.12168072_12168087del, NC_000019.10:g.12168073_12168087del, NC_000019.10:g.12168074_12168087del, NC_000019.10:g.12168075_12168087del, NC_000019.10:g.12168076_12168087del, NC_000019.10:g.12168077_12168087del, NC_000019.10:g.12168078_12168087del, NC_000019.10:g.12168079_12168087del, NC_000019.10:g.12168080_12168087del, NC_000019.10:g.12168081_12168087del, NC_000019.10:g.12168082_12168087del, NC_000019.10:g.12168083_12168087del, NC_000019.10:g.12168084_12168087del, NC_000019.10:g.12168085_12168087del, NC_000019.10:g.12168086_12168087del, NC_000019.10:g.12168087del, NC_000019.10:g.12168087dup, NC_000019.10:g.12168086_12168087dup, NC_000019.10:g.12168085_12168087dup, NC_000019.10:g.12168084_12168087dup, NC_000019.10:g.12168083_12168087dup, NC_000019.10:g.12168081_12168087dup, NC_000019.10:g.12168080_12168087dup, NC_000019.10:g.12168058_12168087T[38]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.12168078_12168087dup, NC_000019.10:g.12168077_12168087dup, NC_000019.10:g.12168076_12168087dup, NC_000019.10:g.12168075_12168087dup, NC_000019.10:g.12168074_12168087dup, NC_000019.10:g.12168073_12168087dup, NC_000019.10:g.12168072_12168087dup, NC_000019.10:g.12168071_12168087dup, NC_000019.10:g.12168070_12168087dup, NC_000019.10:g.12168069_12168087dup, NC_000019.10:g.12168068_12168087dup, NC_000019.10:g.12168067_12168087dup, NC_000019.10:g.12168064_12168087dup, NC_000019.10:g.12168063_12168087dup, NC_000019.10:g.12168062_12168087dup, NC_000019.10:g.12168061_12168087dup, NC_000019.10:g.12168060_12168087dup, NC_000019.10:g.12168059_12168087dup, NC_000019.10:g.12168058_12168087dup, NC_000019.10:g.12168087_12168088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.12168087_12168088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.12168087_12168088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.12168087_12168088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12278881_12278902del, NC_000019.9:g.12278884_12278902del, NC_000019.9:g.12278885_12278902del, NC_000019.9:g.12278886_12278902del, NC_000019.9:g.12278887_12278902del, NC_000019.9:g.12278888_12278902del, NC_000019.9:g.12278889_12278902del, NC_000019.9:g.12278890_12278902del, NC_000019.9:g.12278891_12278902del, NC_000019.9:g.12278892_12278902del, NC_000019.9:g.12278893_12278902del, NC_000019.9:g.12278894_12278902del, NC_000019.9:g.12278895_12278902del, NC_000019.9:g.12278896_12278902del, NC_000019.9:g.12278897_12278902del, NC_000019.9:g.12278898_12278902del, NC_000019.9:g.12278899_12278902del, NC_000019.9:g.12278900_12278902del, NC_000019.9:g.12278901_12278902del, NC_000019.9:g.12278902del, NC_000019.9:g.12278902dup, NC_000019.9:g.12278901_12278902dup, NC_000019.9:g.12278900_12278902dup, NC_000019.9:g.12278899_12278902dup, NC_000019.9:g.12278898_12278902dup, NC_000019.9:g.12278896_12278902dup, NC_000019.9:g.12278895_12278902dup, NC_000019.9:g.12278873_12278902T[38]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.12278893_12278902dup, NC_000019.9:g.12278892_12278902dup, NC_000019.9:g.12278891_12278902dup, NC_000019.9:g.12278890_12278902dup, NC_000019.9:g.12278889_12278902dup, NC_000019.9:g.12278888_12278902dup, NC_000019.9:g.12278887_12278902dup, NC_000019.9:g.12278886_12278902dup, NC_000019.9:g.12278885_12278902dup, NC_000019.9:g.12278884_12278902dup, NC_000019.9:g.12278883_12278902dup, NC_000019.9:g.12278882_12278902dup, NC_000019.9:g.12278879_12278902dup, NC_000019.9:g.12278878_12278902dup, NC_000019.9:g.12278877_12278902dup, NC_000019.9:g.12278876_12278902dup, NC_000019.9:g.12278875_12278902dup, NC_000019.9:g.12278874_12278902dup, NC_000019.9:g.12278873_12278902dup, NC_000019.9:g.12278902_12278903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12278902_12278903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12278902_12278903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12278902_12278903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052983.1:g.10020_10041del, NG_052983.1:g.10023_10041del, NG_052983.1:g.10024_10041del, NG_052983.1:g.10025_10041del, NG_052983.1:g.10026_10041del, NG_052983.1:g.10027_10041del, NG_052983.1:g.10028_10041del, NG_052983.1:g.10029_10041del, NG_052983.1:g.10030_10041del, NG_052983.1:g.10031_10041del, NG_052983.1:g.10032_10041del, NG_052983.1:g.10033_10041del, NG_052983.1:g.10034_10041del, NG_052983.1:g.10035_10041del, NG_052983.1:g.10036_10041del, NG_052983.1:g.10037_10041del, NG_052983.1:g.10038_10041del, NG_052983.1:g.10039_10041del, NG_052983.1:g.10040_10041del, NG_052983.1:g.10041del, NG_052983.1:g.10041dup, NG_052983.1:g.10040_10041dup, NG_052983.1:g.10039_10041dup, NG_052983.1:g.10038_10041dup, NG_052983.1:g.10037_10041dup, NG_052983.1:g.10035_10041dup, NG_052983.1:g.10034_10041dup, NG_052983.1:g.10012_10041T[38]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_052983.1:g.10032_10041dup, NG_052983.1:g.10031_10041dup, NG_052983.1:g.10030_10041dup, NG_052983.1:g.10029_10041dup, NG_052983.1:g.10028_10041dup, NG_052983.1:g.10027_10041dup, NG_052983.1:g.10026_10041dup, NG_052983.1:g.10025_10041dup, NG_052983.1:g.10024_10041dup, NG_052983.1:g.10023_10041dup, NG_052983.1:g.10022_10041dup, NG_052983.1:g.10021_10041dup, NG_052983.1:g.10018_10041dup, NG_052983.1:g.10017_10041dup, NG_052983.1:g.10016_10041dup, NG_052983.1:g.10015_10041dup, NG_052983.1:g.10014_10041dup, NG_052983.1:g.10013_10041dup, NG_052983.1:g.10012_10041dup, NG_052983.1:g.10041_10042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052983.1:g.10041_10042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052983.1:g.10041_10042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052983.1:g.10041_10042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1490829483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12166700
(GRCh38)
19:12277515
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12166699:A:G
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490767776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12160624
(GRCh38)
19:12271439
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12160623:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490620568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12180368
(GRCh38)
19:12291183
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12180367:A:G
- Gene:
- ZNF136 (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)
- HGVS:
11.
rs1490360742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12179523
(GRCh38)
19:12290338
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12179522:G:A
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490292864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12159448
(GRCh38)
19:12270263
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12159447:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490277175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:12172191
(GRCh38)
19:12283006
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12172190:T:G
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490246142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 19:12184200
(GRCh38)
19:12295015
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12184199:A:G,NC_000019.10:12184199:A:T
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490013256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12168007
(GRCh38)
19:12278822
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12168006:A:G
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1489997094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12186970
(GRCh38)
19:12297785
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12186969:T:C
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.12186970T>C, NC_000019.9:g.12297785T>C, NG_052983.1:g.28924T>C, NM_003437.5:c.592T>C, NM_003437.4:c.592T>C, NM_003437.3:c.592T>C, NM_001348014.2:c.496T>C, NM_001348014.1:c.496T>C, NM_001348013.2:c.394T>C, NM_001348013.1:c.394T>C, NP_003428.1:p.Cys198Arg, NP_001334943.1:p.Cys166Arg, NP_001334942.1:p.Cys132Arg
17.
rs1489941594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12165494
(GRCh38)
19:12276309
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12165493:T:C
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489912920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12165405
(GRCh38)
19:12276220
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12165404:G:A
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489898618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:12166503
(GRCh38)
19:12277318
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12166502:C:A,NC_000019.10:12166502:C:T
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489874529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:12179159
(GRCh38)
19:12289974
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12179158:T:A
- Gene:
- ZNF136 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: