Links from Gene
Items: 1 to 20 of 13879
2.
rs1491538342 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:38070738
(GRCh38)
20:36699140
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38070737:AT:
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0013/5
(TWINSUK)
-=0.0016/6
(ALSPAC)
- HGVS:
3.
rs1491502801 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:38062838
(GRCh38)
20:36691240
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38062837:CT:
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00012/11
(GnomAD)
- HGVS:
4.
rs1491489411 has merged into rs74179885 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:38044386
(GRCh38)
20:36672788
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38044372:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.38044386_38044391del, NC_000020.11:g.38044387_38044391del, NC_000020.11:g.38044388_38044391del, NC_000020.11:g.38044389_38044391del, NC_000020.11:g.38044390_38044391del, NC_000020.11:g.38044391del, NC_000020.11:g.38044391dup, NC_000020.11:g.38044390_38044391dup, NC_000020.11:g.38044389_38044391dup, NC_000020.11:g.38044388_38044391dup, NC_000020.11:g.38044387_38044391dup, NC_000020.11:g.38044386_38044391dup, NC_000020.11:g.38044384_38044391dup, NC_000020.11:g.38044383_38044391dup, NC_000020.11:g.38044381_38044391dup, NC_000020.11:g.38044380_38044391dup, NC_000020.11:g.38044379_38044391dup, NC_000020.11:g.38044391_38044392insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.38044391_38044392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.36672788_36672793del, NC_000020.10:g.36672789_36672793del, NC_000020.10:g.36672790_36672793del, NC_000020.10:g.36672791_36672793del, NC_000020.10:g.36672792_36672793del, NC_000020.10:g.36672793del, NC_000020.10:g.36672793dup, NC_000020.10:g.36672792_36672793dup, NC_000020.10:g.36672791_36672793dup, NC_000020.10:g.36672790_36672793dup, NC_000020.10:g.36672789_36672793dup, NC_000020.10:g.36672788_36672793dup, NC_000020.10:g.36672786_36672793dup, NC_000020.10:g.36672785_36672793dup, NC_000020.10:g.36672783_36672793dup, NC_000020.10:g.36672782_36672793dup, NC_000020.10:g.36672781_36672793dup, NC_000020.10:g.36672793_36672794insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.36672793_36672794insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491415121 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:38038307
(GRCh38)
20:36666709
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38038306:AT:
- Gene:
- RPRD1B (Varview), LOC124904898 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491349376 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 20:38052780
(GRCh38)
20:36681182
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38052779:TA:
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00042/5
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00164/3
(Korea1K)
- HGVS:
7.
rs1491316448 has merged into rs1445270769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 20:38052781
(GRCh38)
20:36681183
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38052780:AAA:AA,NC_000020.11:38052780:AAA:AAAA
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.00007/5
(GnomAD)
- HGVS:
8.
rs1491266795 has merged into rs150397040 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:38038502
(GRCh38)
20:36666904
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038490:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPRD1B (Varview), LOC124904898 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.37312/1438
(ALSPAC)
-=0.37999/1409
(TWINSUK)
- HGVS:
NC_000020.11:g.38038502_38038514del, NC_000020.11:g.38038503_38038514del, NC_000020.11:g.38038504_38038514del, NC_000020.11:g.38038505_38038514del, NC_000020.11:g.38038506_38038514del, NC_000020.11:g.38038507_38038514del, NC_000020.11:g.38038508_38038514del, NC_000020.11:g.38038509_38038514del, NC_000020.11:g.38038510_38038514del, NC_000020.11:g.38038512_38038514del, NC_000020.11:g.38038513_38038514del, NC_000020.11:g.38038514del, NC_000020.11:g.38038514dup, NC_000020.11:g.38038513_38038514dup, NC_000020.11:g.38038512_38038514dup, NC_000020.11:g.38038511_38038514dup, NC_000020.11:g.38038510_38038514dup, NC_000020.11:g.38038509_38038514dup, NC_000020.11:g.38038508_38038514dup, NC_000020.11:g.38038507_38038514dup, NC_000020.11:g.38038506_38038514dup, NC_000020.11:g.38038505_38038514dup, NC_000020.11:g.38038504_38038514dup, NC_000020.11:g.38038503_38038514dup, NC_000020.11:g.38038502_38038514dup, NC_000020.11:g.38038501_38038514dup, NC_000020.11:g.38038500_38038514dup, NC_000020.11:g.38038499_38038514dup, NC_000020.11:g.38038498_38038514dup, NC_000020.11:g.38038497_38038514dup, NC_000020.11:g.38038496_38038514dup, NC_000020.11:g.38038495_38038514dup, NC_000020.11:g.38038494_38038514dup, NC_000020.11:g.38038493_38038514dup, NC_000020.11:g.38038492_38038514dup, NC_000020.11:g.38038491_38038514dup, NC_000020.10:g.36666904_36666916del, NC_000020.10:g.36666905_36666916del, NC_000020.10:g.36666906_36666916del, NC_000020.10:g.36666907_36666916del, NC_000020.10:g.36666908_36666916del, NC_000020.10:g.36666909_36666916del, NC_000020.10:g.36666910_36666916del, NC_000020.10:g.36666911_36666916del, NC_000020.10:g.36666912_36666916del, NC_000020.10:g.36666914_36666916del, NC_000020.10:g.36666915_36666916del, NC_000020.10:g.36666916del, NC_000020.10:g.36666916dup, NC_000020.10:g.36666915_36666916dup, NC_000020.10:g.36666914_36666916dup, NC_000020.10:g.36666913_36666916dup, NC_000020.10:g.36666912_36666916dup, NC_000020.10:g.36666911_36666916dup, NC_000020.10:g.36666910_36666916dup, NC_000020.10:g.36666909_36666916dup, NC_000020.10:g.36666908_36666916dup, NC_000020.10:g.36666907_36666916dup, NC_000020.10:g.36666906_36666916dup, NC_000020.10:g.36666905_36666916dup, NC_000020.10:g.36666904_36666916dup, NC_000020.10:g.36666903_36666916dup, NC_000020.10:g.36666902_36666916dup, NC_000020.10:g.36666901_36666916dup, NC_000020.10:g.36666900_36666916dup, NC_000020.10:g.36666899_36666916dup, NC_000020.10:g.36666898_36666916dup, NC_000020.10:g.36666897_36666916dup, NC_000020.10:g.36666896_36666916dup, NC_000020.10:g.36666895_36666916dup, NC_000020.10:g.36666894_36666916dup, NC_000020.10:g.36666893_36666916dup
9.
rs1491222792 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:38079287
(GRCh38)
20:36707690
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38079287:GGGGG:GGGGGG
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491144735 has merged into rs557260550 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:38038321
(GRCh38)
20:36666723
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:38038307:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPRD1B (Varview), LOC124904898 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.33726/1689
(1000Genomes)
- HGVS:
NC_000020.11:g.38038321_38038324del, NC_000020.11:g.38038322_38038324del, NC_000020.11:g.38038323_38038324del, NC_000020.11:g.38038324del, NC_000020.11:g.38038324dup, NC_000020.11:g.38038323_38038324dup, NC_000020.11:g.38038322_38038324dup, NC_000020.11:g.38038321_38038324dup, NC_000020.11:g.38038320_38038324dup, NC_000020.10:g.36666723_36666726del, NC_000020.10:g.36666724_36666726del, NC_000020.10:g.36666725_36666726del, NC_000020.10:g.36666726del, NC_000020.10:g.36666726dup, NC_000020.10:g.36666725_36666726dup, NC_000020.10:g.36666724_36666726dup, NC_000020.10:g.36666723_36666726dup, NC_000020.10:g.36666722_36666726dup
11.
rs1490936231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:38070736
(GRCh38)
20:36699138
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38070735:T:C
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
12.
rs1490887203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 20:38086529
(GRCh38)
20:36714931
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38086528:GGG:GG
- Gene:
- RPRD1B (Varview), LOC124904897 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
15.
rs1490760435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 20:38034430
(GRCh38)
20:36662832
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38034429:G:C,NC_000020.11:38034429:G:T
- Gene:
- TTI1 (Varview), RPRD1B (Varview), LOC124904898 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
T=0.000212/4
(TOMMO)
T=0.000684/2
(KOREAN)
- HGVS:
16.
rs1490689792 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:38064307
(GRCh38)
20:36692710
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38064307:G:GG
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000212/4
(TOMMO)
G=0.000546/1
(Korea1K)
- HGVS:
17.
rs1490662265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:38078727
(GRCh38)
20:36707129
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38078726:G:A
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000049/13
(TOPMED)
- HGVS:
18.
rs1490648472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:38065203
(GRCh38)
20:36693605
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38065202:G:A
- Gene:
- RPRD1B (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.
rs1490553487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:38081096
(GRCh38)
20:36709498
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38081095:T:C
- Gene:
- RPRD1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00066/10
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000038/5
(GnomAD)
C=0.000142/2
(TOMMO)
C=0.000684/2
(KOREAN)
C=0.002009/9
(Estonian)
- HGVS:
20.
rs1490528326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:38083491
(GRCh38)
20:36711893
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38083490:G:A,NC_000020.11:38083490:G:T
- Gene:
- RPRD1B (Varview), LOC124904897 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS: