Links from Gene
Items: 1 to 20 of 14043
1.
rs1491432156 has merged into rs67421012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:10890809
(GRCh38)
19:11001485
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10890795:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.10890809_10890820del, NC_000019.10:g.10890811_10890820del, NC_000019.10:g.10890812_10890820del, NC_000019.10:g.10890813_10890820del, NC_000019.10:g.10890814_10890820del, NC_000019.10:g.10890815_10890820del, NC_000019.10:g.10890816_10890820del, NC_000019.10:g.10890817_10890820del, NC_000019.10:g.10890818_10890820del, NC_000019.10:g.10890819_10890820del, NC_000019.10:g.10890820del, NC_000019.10:g.10890820dup, NC_000019.10:g.10890819_10890820dup, NC_000019.10:g.10890818_10890820dup, NC_000019.10:g.10890817_10890820dup, NC_000019.10:g.10890816_10890820dup, NC_000019.10:g.10890815_10890820dup, NC_000019.10:g.10890814_10890820dup, NC_000019.10:g.10890813_10890820dup, NC_000019.10:g.10890812_10890820dup, NC_000019.10:g.10890810_10890820dup, NC_000019.10:g.10890809_10890820dup, NC_000019.10:g.10890808_10890820dup, NC_000019.10:g.10890807_10890820dup, NC_000019.10:g.10890806_10890820dup, NC_000019.10:g.10890804_10890820dup, NC_000019.10:g.10890803_10890820dup, NC_000019.10:g.10890797_10890820dup, NC_000019.9:g.11001485_11001496del, NC_000019.9:g.11001487_11001496del, NC_000019.9:g.11001488_11001496del, NC_000019.9:g.11001489_11001496del, NC_000019.9:g.11001490_11001496del, NC_000019.9:g.11001491_11001496del, NC_000019.9:g.11001492_11001496del, NC_000019.9:g.11001493_11001496del, NC_000019.9:g.11001494_11001496del, NC_000019.9:g.11001495_11001496del, NC_000019.9:g.11001496del, NC_000019.9:g.11001496dup, NC_000019.9:g.11001495_11001496dup, NC_000019.9:g.11001494_11001496dup, NC_000019.9:g.11001493_11001496dup, NC_000019.9:g.11001492_11001496dup, NC_000019.9:g.11001491_11001496dup, NC_000019.9:g.11001490_11001496dup, NC_000019.9:g.11001489_11001496dup, NC_000019.9:g.11001488_11001496dup, NC_000019.9:g.11001486_11001496dup, NC_000019.9:g.11001485_11001496dup, NC_000019.9:g.11001484_11001496dup, NC_000019.9:g.11001483_11001496dup, NC_000019.9:g.11001482_11001496dup, NC_000019.9:g.11001480_11001496dup, NC_000019.9:g.11001479_11001496dup, NC_000019.9:g.11001473_11001496dup
2.
rs1491315368 has merged into rs1396281380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 19:10890787
(GRCh38)
19:11001463
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000019.10:10890774:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.10890775AT[6], NC_000019.10:g.10890775AT[7], NC_000019.10:g.10890775AT[8], NC_000019.10:g.10890775AT[9], NC_000019.10:g.10890775AT[10], NC_000019.10:g.10890775AT[12], NC_000019.10:g.10890775AT[13], NC_000019.10:g.10890775AT[15], NC_000019.9:g.11001451AT[6], NC_000019.9:g.11001451AT[7], NC_000019.9:g.11001451AT[8], NC_000019.9:g.11001451AT[9], NC_000019.9:g.11001451AT[10], NC_000019.9:g.11001451AT[12], NC_000019.9:g.11001451AT[13], NC_000019.9:g.11001451AT[15]
3.
rs1491268258 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA
[Show Flanks]
- Chromosome:
- 19:10890796
(GRCh38)
19:11001473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10890796::A,NC_000019.10:10890796::ATA,NC_000019.10:10890796::ATATA,NC_000019.10:10890796::ATATATA
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
ATATATA=0.00002/1
(GnomAD)
- HGVS:
4.
rs1491232956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATT,CTT
[Show Flanks]
- Chromosome:
- 19:10885889
(GRCh38)
19:10996566
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10885889:TT:TTATT,NC_000019.10:10885889:TT:TTCTT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0.00008/1
(
ALFA)
TTA=0.00001/1
(GnomAD)
TTC=0.0011/16
(TOMMO)
- HGVS:
5.
rs1491214532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:10882273
(GRCh38)
19:10992949
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10882271:GTG:G
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491209212 has merged into rs772915996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:10884022
(GRCh38)
19:10994698
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10884013:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TT=0.26466/1020
(ALSPAC)
TT=0.27913/1035
(TWINSUK)
- HGVS:
NC_000019.10:g.10884022_10884030del, NC_000019.10:g.10884026_10884030del, NC_000019.10:g.10884029_10884030del, NC_000019.10:g.10884030del, NC_000019.10:g.10884030dup, NC_000019.10:g.10884029_10884030dup, NC_000019.10:g.10884028_10884030dup, NC_000019.10:g.10884014_10884030T[20]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10884027_10884030dup, NC_000019.10:g.10884026_10884030dup, NC_000019.9:g.10994698_10994706del, NC_000019.9:g.10994702_10994706del, NC_000019.9:g.10994705_10994706del, NC_000019.9:g.10994706del, NC_000019.9:g.10994706dup, NC_000019.9:g.10994705_10994706dup, NC_000019.9:g.10994704_10994706dup, NC_000019.9:g.10994690_10994706T[20]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10994703_10994706dup, NC_000019.9:g.10994702_10994706dup
7.
rs1491156835 has merged into rs766173367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:10885902
(GRCh38)
19:10996578
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10885888:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.10885902_10885914del, NC_000019.10:g.10885903_10885914del, NC_000019.10:g.10885905_10885914del, NC_000019.10:g.10885906_10885914del, NC_000019.10:g.10885907_10885914del, NC_000019.10:g.10885908_10885914del, NC_000019.10:g.10885909_10885914del, NC_000019.10:g.10885910_10885914del, NC_000019.10:g.10885911_10885914del, NC_000019.10:g.10885912_10885914del, NC_000019.10:g.10885913_10885914del, NC_000019.10:g.10885914del, NC_000019.10:g.10885914dup, NC_000019.10:g.10885913_10885914dup, NC_000019.10:g.10885912_10885914dup, NC_000019.9:g.10996578_10996590del, NC_000019.9:g.10996579_10996590del, NC_000019.9:g.10996581_10996590del, NC_000019.9:g.10996582_10996590del, NC_000019.9:g.10996583_10996590del, NC_000019.9:g.10996584_10996590del, NC_000019.9:g.10996585_10996590del, NC_000019.9:g.10996586_10996590del, NC_000019.9:g.10996587_10996590del, NC_000019.9:g.10996588_10996590del, NC_000019.9:g.10996589_10996590del, NC_000019.9:g.10996590del, NC_000019.9:g.10996590dup, NC_000019.9:g.10996589_10996590dup, NC_000019.9:g.10996588_10996590dup
8.
rs1491075361 has merged into rs1238494383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 19:10920144
(GRCh38)
19:11030820
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10920142:TAT:T,NC_000019.10:10920142:TAT:TATAT
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
-=0.00029/35
(GnomAD)
-=0.001309/22
(TOMMO)
-=0.003275/6
(Korea1K)
- HGVS:
9.
rs1491025372 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:10890265
(GRCh38)
19:11000941
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10890263:TGT:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000337/4
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
10.
rs1490933349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:10910036
(GRCh38)
19:11020712
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10910035:T:G
- Gene:
- CARM1 (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.
rs1490900967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:10870670
(GRCh38)
19:10981346
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10870669:C:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490885201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:10895444
(GRCh38)
19:11006120
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10895443:C:G,NC_000019.10:10895443:C:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490844804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:10895962
(GRCh38)
19:11006638
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10895961:T:C
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490806675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:10923229
(GRCh38)
19:11033905
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10923228:G:A
- Gene:
- CARM1 (Varview), YIPF2 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490801057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:10883479
(GRCh38)
19:10994155
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10883478:C:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490791094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:10882600
(GRCh38)
19:10993276
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10882599:G:A
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
17.
rs1490782788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:10884447
(GRCh38)
19:10995123
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10884446:A:G
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490675572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:10883870
(GRCh38)
19:10994546
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10883869:T:A,NC_000019.10:10883869:T:C
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490617818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:10885425
(GRCh38)
19:10996101
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10885424:C:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000036/5
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
20.
rs1490615056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:10890562
(GRCh38)
19:11001238
(GRCh37)
- Canonical SPDI:
- NC_000019.10:10890561:C:T
- Gene:
- CARM1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000036/5
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS: