SNP Links for Gene (Select 139562) - SNP

Links from Gene

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Select item 14915576281.

rs1491557628 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:70060883 (GRCh38)
X:69280733 (GRCh37)
Canonical SPDI:: NC_000023.11:70060882:AA:
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.70060883_70060884del, NC_000023.10:g.69280733_69280734del

Select item 14914620222.

rs1491462022 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: X:70060516 (GRCh38)
X:69280367 (GRCh37)
Canonical SPDI:: NC_000023.11:70060516::T
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.70060516_70060517insT, NC_000023.10:g.69280366_69280367insT

Select item 14912585753.

rs1491258575 has merged into rs1165602395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG,AGAGAGAGAG [Show Flanks]
Chromosome:: X:70060894 (GRCh38)
X:69280744 (GRCh37)
Canonical SPDI:: NC_000023.11:70060883:AGAGAGAGAGAGAGAG:AGAGAGAGAG,NC_000023.11:70060883:AGAGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000023.11:70060883:AGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000023.11:70060883:AGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000023.11:70060883:AGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG
Gene:: OTUD6A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0./0 (ALFA)
AG=0.00005/1 (TOMMO)
HGVS:: NC_000023.11:g.70060884AG[5], NC_000023.11:g.70060884AG[6], NC_000023.11:g.70060884AG[7], NC_000023.11:g.70060884AG[9], NC_000023.11:g.70060884AG[10], NC_000023.10:g.69280734AG[5], NC_000023.10:g.69280734AG[6], NC_000023.10:g.69280734AG[7], NC_000023.10:g.69280734AG[9], NC_000023.10:g.69280734AG[10]

Select item 14912234864.

rs1491223486 has merged into rs60131176 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:70060527 (GRCh38)
X:69280377 (GRCh37)
Canonical SPDI:: NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.70060527_70060539del, NC_000023.11:g.70060528_70060539del, NC_000023.11:g.70060529_70060539del, NC_000023.11:g.70060531_70060539del, NC_000023.11:g.70060533_70060539del, NC_000023.11:g.70060534_70060539del, NC_000023.11:g.70060535_70060539del, NC_000023.11:g.70060536_70060539del, NC_000023.11:g.70060537_70060539del, NC_000023.11:g.70060538_70060539del, NC_000023.11:g.70060539del, NC_000023.11:g.70060539dup, NC_000023.11:g.70060538_70060539dup, NC_000023.11:g.70060537_70060539dup, NC_000023.11:g.70060536_70060539dup, NC_000023.11:g.70060535_70060539dup, NC_000023.11:g.70060534_70060539dup, NC_000023.11:g.70060531_70060539dup, NC_000023.11:g.70060530_70060539dup, NC_000023.11:g.70060529_70060539dup, NC_000023.11:g.70060527_70060539dup, NC_000023.11:g.70060526_70060539dup, NC_000023.10:g.69280377_69280389del, NC_000023.10:g.69280378_69280389del, NC_000023.10:g.69280379_69280389del, NC_000023.10:g.69280381_69280389del, NC_000023.10:g.69280383_69280389del, NC_000023.10:g.69280384_69280389del, NC_000023.10:g.69280385_69280389del, NC_000023.10:g.69280386_69280389del, NC_000023.10:g.69280387_69280389del, NC_000023.10:g.69280388_69280389del, NC_000023.10:g.69280389del, NC_000023.10:g.69280389dup, NC_000023.10:g.69280388_69280389dup, NC_000023.10:g.69280387_69280389dup, NC_000023.10:g.69280386_69280389dup, NC_000023.10:g.69280385_69280389dup, NC_000023.10:g.69280384_69280389dup, NC_000023.10:g.69280381_69280389dup, NC_000023.10:g.69280380_69280389dup, NC_000023.10:g.69280379_69280389dup, NC_000023.10:g.69280377_69280389dup, NC_000023.10:g.69280376_69280389dup

Select item 14902873795.

rs1490287379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:70061112 (GRCh38)
X:69280962 (GRCh37)
Canonical SPDI:: NC_000023.11:70061111:T:C
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.70061112T>C, NC_000023.10:g.69280962T>C

Select item 14902622126.

rs1490262212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:70062142 (GRCh38)
X:69281992 (GRCh37)
Canonical SPDI:: NC_000023.11:70062141:C:A,NC_000023.11:70062141:C:T
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.70062142C>A, NC_000023.11:g.70062142C>T, NC_000023.10:g.69281992C>A, NC_000023.10:g.69281992C>T

Select item 14902166347.

rs1490216634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70062011 (GRCh38)
X:69281861 (GRCh37)
Canonical SPDI:: NC_000023.11:70062010:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.70062011G>A, NC_000023.10:g.69281861G>A

Select item 14894877478.

rs1489487747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:70062812 (GRCh38)
X:69282662 (GRCh37)
Canonical SPDI:: NC_000023.11:70062811:A:G
Gene:: OTUD6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.70062812A>G, NC_000023.10:g.69282662A>G, NM_207320.3:c.288A>G, NM_207320.2:c.288A>G, NM_207320.1:c.288A>G

Select item 14893807409.

rs1489380740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:70064239 (GRCh38)
X:69284089 (GRCh37)
Canonical SPDI:: NC_000023.11:70064238:C:A
Gene:: OTUD6A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.70064239C>A, NC_000023.10:g.69284089C>A

Select item 148821749110.

rs1488217491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:70062702 (GRCh38)
X:69282552 (GRCh37)
Canonical SPDI:: NC_000023.11:70062701:C:A,NC_000023.11:70062701:C:T
Gene:: OTUD6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.70062702C>A, NC_000023.11:g.70062702C>T, NC_000023.10:g.69282552C>A, NC_000023.10:g.69282552C>T, NM_207320.3:c.178C>A, NM_207320.3:c.178C>T, NM_207320.2:c.178C>A, NM_207320.2:c.178C>T, NM_207320.1:c.178C>A, NM_207320.1:c.178C>T, NP_997203.1:p.Arg60Trp

Select item 148785032511.

rs1487850325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70063280 (GRCh38)
X:69283130 (GRCh37)
Canonical SPDI:: NC_000023.11:70063279:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.70063280G>A, NC_000023.10:g.69283130G>A, NM_207320.3:c.756G>A, NM_207320.2:c.756G>A, NM_207320.1:c.756G>A

Select item 148739719612.

rs1487397196 has merged into rs60131176 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:70060527 (GRCh38)
X:69280377 (GRCh37)
Canonical SPDI:: NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:70060515:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.70060527_70060539del, NC_000023.11:g.70060528_70060539del, NC_000023.11:g.70060529_70060539del, NC_000023.11:g.70060531_70060539del, NC_000023.11:g.70060533_70060539del, NC_000023.11:g.70060534_70060539del, NC_000023.11:g.70060535_70060539del, NC_000023.11:g.70060536_70060539del, NC_000023.11:g.70060537_70060539del, NC_000023.11:g.70060538_70060539del, NC_000023.11:g.70060539del, NC_000023.11:g.70060539dup, NC_000023.11:g.70060538_70060539dup, NC_000023.11:g.70060537_70060539dup, NC_000023.11:g.70060536_70060539dup, NC_000023.11:g.70060535_70060539dup, NC_000023.11:g.70060534_70060539dup, NC_000023.11:g.70060531_70060539dup, NC_000023.11:g.70060530_70060539dup, NC_000023.11:g.70060529_70060539dup, NC_000023.11:g.70060527_70060539dup, NC_000023.11:g.70060526_70060539dup, NC_000023.10:g.69280377_69280389del, NC_000023.10:g.69280378_69280389del, NC_000023.10:g.69280379_69280389del, NC_000023.10:g.69280381_69280389del, NC_000023.10:g.69280383_69280389del, NC_000023.10:g.69280384_69280389del, NC_000023.10:g.69280385_69280389del, NC_000023.10:g.69280386_69280389del, NC_000023.10:g.69280387_69280389del, NC_000023.10:g.69280388_69280389del, NC_000023.10:g.69280389del, NC_000023.10:g.69280389dup, NC_000023.10:g.69280388_69280389dup, NC_000023.10:g.69280387_69280389dup, NC_000023.10:g.69280386_69280389dup, NC_000023.10:g.69280385_69280389dup, NC_000023.10:g.69280384_69280389dup, NC_000023.10:g.69280381_69280389dup, NC_000023.10:g.69280380_69280389dup, NC_000023.10:g.69280379_69280389dup, NC_000023.10:g.69280377_69280389dup, NC_000023.10:g.69280376_69280389dup

Select item 148638312513.

rs1486383125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70062305 (GRCh38)
X:69282155 (GRCh37)
Canonical SPDI:: NC_000023.11:70062304:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000048/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.70062305G>A, NC_000023.10:g.69282155G>A

Select item 148622607314.

rs1486226073 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: X:70061279 (GRCh38)
X:69281130 (GRCh37)
Canonical SPDI:: NC_000023.11:70061279:AAA:AAACAAA
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.70061282_70061283insCAAA, NC_000023.10:g.69281132_69281133insCAAA

Select item 148538824615.

rs1485388246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:70062572 (GRCh38)
X:69282422 (GRCh37)
Canonical SPDI:: NC_000023.11:70062571:A:T
Gene:: OTUD6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70062572A>T, NC_000023.10:g.69282422A>T, NM_207320.3:c.48A>T, NM_207320.2:c.48A>T, NM_207320.1:c.48A>T, NP_997203.1:p.Gln16His

Select item 148535184516.

rs1485351845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70064254 (GRCh38)
X:69284104 (GRCh37)
Canonical SPDI:: NC_000023.11:70064253:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.70064254G>A, NC_000023.10:g.69284104G>A

Select item 148487825617.

rs1484878256 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:70061556 (GRCh38)
X:69281406 (GRCh37)
Canonical SPDI:: NC_000023.11:70061555:TT:T
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.001281/18 (ALFA)
-=0.000988/103 (GnomAD)
-=0.00099/262 (TOPMED)
-=0.001249/6 (1000Genomes)
HGVS:: NC_000023.11:g.70061557del, NC_000023.10:g.69281407del

Select item 148389068218.

rs1483890682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70062881 (GRCh38)
X:69282731 (GRCh37)
Canonical SPDI:: NC_000023.11:70062880:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.70062881G>A, NC_000023.10:g.69282731G>A, NM_207320.3:c.357G>A, NM_207320.2:c.357G>A, NM_207320.1:c.357G>A

Select item 148386246919.

rs1483862469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:70061646 (GRCh38)
X:69281496 (GRCh37)
Canonical SPDI:: NC_000023.11:70061645:C:A,NC_000023.11:70061645:C:T
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.70061646C>A, NC_000023.11:g.70061646C>T, NC_000023.10:g.69281496C>A, NC_000023.10:g.69281496C>T

Select item 148260676120.

rs1482606761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:70060801 (GRCh38)
X:69280651 (GRCh37)
Canonical SPDI:: NC_000023.11:70060800:G:A
Gene:: OTUD6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.70060801G>A, NC_000023.10:g.69280651G>A

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