SNP Links for Gene (Select 5009) - SNP

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Select item 14914263301.

rs1491426330 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:38381871 (GRCh38)
X:38241124 (GRCh37)
Canonical SPDI:: NC_000023.11:38381869:AGA:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.38381871_38381872del, NC_000023.10:g.38241124_38241125del, NG_008471.1:g.34389_34390del

Select item 14912518262.

rs1491251826 has merged into rs138806207 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:38356061 (GRCh38)
X:38215314 (GRCh37)
Canonical SPDI:: NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:38356050:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.38356061_38356075del, NC_000023.11:g.38356066_38356075del, NC_000023.11:g.38356068_38356075del, NC_000023.11:g.38356069_38356075del, NC_000023.11:g.38356070_38356075del, NC_000023.11:g.38356071_38356075del, NC_000023.11:g.38356072_38356075del, NC_000023.11:g.38356073_38356075del, NC_000023.11:g.38356074_38356075del, NC_000023.11:g.38356075del, NC_000023.11:g.38356075dup, NC_000023.11:g.38356074_38356075dup, NC_000023.11:g.38356073_38356075dup, NC_000023.11:g.38356072_38356075dup, NC_000023.11:g.38356067_38356075dup, NC_000023.11:g.38356058_38356075dup, NC_000023.10:g.38215314_38215328del, NC_000023.10:g.38215319_38215328del, NC_000023.10:g.38215321_38215328del, NC_000023.10:g.38215322_38215328del, NC_000023.10:g.38215323_38215328del, NC_000023.10:g.38215324_38215328del, NC_000023.10:g.38215325_38215328del, NC_000023.10:g.38215326_38215328del, NC_000023.10:g.38215327_38215328del, NC_000023.10:g.38215328del, NC_000023.10:g.38215328dup, NC_000023.10:g.38215327_38215328dup, NC_000023.10:g.38215326_38215328dup, NC_000023.10:g.38215325_38215328dup, NC_000023.10:g.38215320_38215328dup, NC_000023.10:g.38215311_38215328dup, NG_008471.1:g.8579_8593del, NG_008471.1:g.8584_8593del, NG_008471.1:g.8586_8593del, NG_008471.1:g.8587_8593del, NG_008471.1:g.8588_8593del, NG_008471.1:g.8589_8593del, NG_008471.1:g.8590_8593del, NG_008471.1:g.8591_8593del, NG_008471.1:g.8592_8593del, NG_008471.1:g.8593del, NG_008471.1:g.8593dup, NG_008471.1:g.8592_8593dup, NG_008471.1:g.8591_8593dup, NG_008471.1:g.8590_8593dup, NG_008471.1:g.8585_8593dup, NG_008471.1:g.8576_8593dup

Select item 14910991483.

rs1491099148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:38356050 (GRCh38)
X:38215303 (GRCh37)
Canonical SPDI:: NC_000023.11:38356049:CA:
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.38356050_38356051del, NC_000023.10:g.38215303_38215304del, NG_008471.1:g.8568_8569del

Select item 14910120974.

rs1491012097 has merged into rs1555974125 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: X:38386399 (GRCh38)
X:38245652 (GRCh37)
Canonical SPDI:: NC_000023.11:38386386:ATATATATATATATAT:ATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:38386386:ATATATATATATATAT:ATATATATATATATATATATATATAT
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.38386387AT[6], NC_000023.11:g.38386387AT[7], NC_000023.11:g.38386387AT[9], NC_000023.11:g.38386387AT[10], NC_000023.11:g.38386387AT[11], NC_000023.11:g.38386387AT[12], NC_000023.11:g.38386387AT[13], NC_000023.10:g.38245640AT[6], NC_000023.10:g.38245640AT[7], NC_000023.10:g.38245640AT[9], NC_000023.10:g.38245640AT[10], NC_000023.10:g.38245640AT[11], NC_000023.10:g.38245640AT[12], NC_000023.10:g.38245640AT[13], NG_008471.1:g.38905AT[6], NG_008471.1:g.38905AT[7], NG_008471.1:g.38905AT[9], NG_008471.1:g.38905AT[10], NG_008471.1:g.38905AT[11], NG_008471.1:g.38905AT[12], NG_008471.1:g.38905AT[13]

Select item 14909823755.

rs1490982375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:38414273 (GRCh38)
X:38273526 (GRCh37)
Canonical SPDI:: NC_000023.11:38414272:A:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.38414273A>G, NC_000023.10:g.38273526A>G, NG_008471.1:g.66791A>G

Select item 14909166246.

rs1490916624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:38367918 (GRCh38)
X:38227171 (GRCh37)
Canonical SPDI:: NC_000023.11:38367917:A:C,NC_000023.11:38367917:A:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.38367918A>C, NC_000023.11:g.38367918A>G, NC_000023.10:g.38227171A>C, NC_000023.10:g.38227171A>G, NG_008471.1:g.20436A>C, NG_008471.1:g.20436A>G

Select item 14908726417.

rs1490872641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:38390669 (GRCh38)
X:38249922 (GRCh37)
Canonical SPDI:: NC_000023.11:38390668:G:T
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.38390669G>T, NC_000023.10:g.38249922G>T, NG_008471.1:g.43187G>T

Select item 14908190968.

rs1490819096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:38357935 (GRCh38)
X:38217188 (GRCh37)
Canonical SPDI:: NC_000023.11:38357934:C:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.38357935C>A, NC_000023.10:g.38217188C>A, NG_008471.1:g.10453C>A

Select item 14907478609.

rs1490747860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:38415600 (GRCh38)
X:38274853 (GRCh37)
Canonical SPDI:: NC_000023.11:38415599:C:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000019/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000416/2 (1000Genomes)
HGVS:: NC_000023.11:g.38415600C>A, NC_000023.10:g.38274853C>A, NG_008471.1:g.68118C>A

Select item 149071252610.

rs1490712526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:38356338 (GRCh38)
X:38215591 (GRCh37)
Canonical SPDI:: NC_000023.11:38356337:T:C
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.38356338T>C, NC_000023.10:g.38215591T>C, NG_008471.1:g.8856T>C

Select item 149065414611.

rs1490654146 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTAT>-,TATTATTAT [Show Flanks]
Chromosome:: X:38366301 (GRCh38)
X:38225554 (GRCh37)
Canonical SPDI:: NC_000023.11:38366291:TATTATTATTATTAT:TATTATTAT,NC_000023.11:38366291:TATTATTATTATTAT:TATTATTATTATTATTAT
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTATTATTATTATTAT=0./0 (ALFA)
TAT=0.000039/4 (GnomAD)
TAT=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.38366292TAT[3], NC_000023.11:g.38366292TAT[6], NC_000023.10:g.38225545TAT[3], NC_000023.10:g.38225545TAT[6], NG_008471.1:g.18810TAT[3], NG_008471.1:g.18810TAT[6]

Select item 149062080112.

rs1490620801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:38416822 (GRCh38)
X:38276075 (GRCh37)
Canonical SPDI:: NC_000023.11:38416821:G:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.38416822G>A, NC_000023.10:g.38276075G>A, NG_008471.1:g.69340G>A

Select item 149040764313.

rs1490407643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:38380655 (GRCh38)
X:38239908 (GRCh37)
Canonical SPDI:: NC_000023.11:38380654:A:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.38380655A>G, NC_000023.10:g.38239908A>G, NG_008471.1:g.33173A>G

Select item 149039539514.

rs1490395395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:38401024 (GRCh38)
X:38260277 (GRCh37)
Canonical SPDI:: NC_000023.11:38401023:G:C
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.38401024G>C, NC_000023.10:g.38260277G>C, NG_008471.1:g.53542G>C

Select item 149038200915.

rs1490382009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:38394210 (GRCh38)
X:38253463 (GRCh37)
Canonical SPDI:: NC_000023.11:38394209:C:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.38394210C>A, NC_000023.10:g.38253463C>A, NG_008471.1:g.46728C>A

Select item 149032483216.

rs1490324832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:38358622 (GRCh38)
X:38217875 (GRCh37)
Canonical SPDI:: NC_000023.11:38358621:T:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.38358622T>G, NC_000023.10:g.38217875T>G, NG_008471.1:g.11140T>G

Select item 149031017417.

rs1490310174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:38369316 (GRCh38)
X:38228569 (GRCh37)
Canonical SPDI:: NC_000023.11:38369315:C:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.38369316C>G, NC_000023.10:g.38228569C>G, NG_008471.1:g.21834C>G

Select item 149009711518.

rs1490097115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:38383809 (GRCh38)
X:38243062 (GRCh37)
Canonical SPDI:: NC_000023.11:38383808:A:G
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.38383809A>G, NC_000023.10:g.38243062A>G, NG_008471.1:g.36327A>G

Select item 148990560919.

rs1489905609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:38401595 (GRCh38)
X:38260848 (GRCh37)
Canonical SPDI:: NC_000023.11:38401594:T:A,NC_000023.11:38401594:T:C
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.38401595T>A, NC_000023.11:g.38401595T>C, NC_000023.10:g.38260848T>A, NC_000023.10:g.38260848T>C, NG_008471.1:g.54113T>A, NG_008471.1:g.54113T>C

Select item 148987544020.

rs1489875440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:38395165 (GRCh38)
X:38254418 (GRCh37)
Canonical SPDI:: NC_000023.11:38395164:G:A
Gene:: OTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.38395165G>A, NC_000023.10:g.38254418G>A, NG_026672.3:g.877C>T, NG_008471.1:g.47683G>A

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