SNP Links for Gene (Select 84187) - SNP

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Select item 14915823971.

rs1491582397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:110087122 (GRCh38)
X:109330351 (GRCh37)
Canonical SPDI:: NC_000023.11:110087122:G:GG
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.110087123dup, NC_000023.10:g.109330351dup

Select item 14915634842.

rs1491563484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: X:110084411 (GRCh38)
X:109327640 (GRCh37)
Canonical SPDI:: NC_000023.11:110084411:T:TAT
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00282/1 (GnomAD)
HGVS:: NC_000023.11:g.110084412_110084413insAT, NC_000023.10:g.109327640_109327641insAT

Select item 14915222373.

rs1491522237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: X:110071717 (GRCh38)
X:109314946 (GRCh37)
Canonical SPDI:: NC_000023.11:110071717:A:ACA
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.110071718_110071719insCA, NC_000023.10:g.109314946_109314947insCA

Select item 14915208054.

rs1491520805 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:110087122 (GRCh38)
X:109330350 (GRCh37)
Canonical SPDI:: NC_000023.11:110087121:TG:
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000208/1 (1000Genomes)
-=0.00025/26 (GnomAD)
HGVS:: NC_000023.11:g.110087122_110087123del, NC_000023.10:g.109330350_109330351del

Select item 14914569105.

rs1491456910 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:110064994 (GRCh38)
X:109308222 (GRCh37)
Canonical SPDI:: NC_000023.11:110064993:CA:
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.110064994_110064995del, NC_000023.10:g.109308222_109308223del, XM_017029894.3:c.-497_-496del

Select item 14913939416.

rs1491393941 has merged into rs56696213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:110076017 (GRCh38)
X:109319245 (GRCh37)
Canonical SPDI:: NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:110076006:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0114/43 (1000Genomes)
HGVS:: NC_000023.11:g.110076017_110076025del, NC_000023.11:g.110076021_110076025del, NC_000023.11:g.110076022_110076025del, NC_000023.11:g.110076023_110076025del, NC_000023.11:g.110076024_110076025del, NC_000023.11:g.110076025del, NC_000023.11:g.110076025dup, NC_000023.11:g.110076021_110076025dup, NC_000023.10:g.109319245_109319253del, NC_000023.10:g.109319249_109319253del, NC_000023.10:g.109319250_109319253del, NC_000023.10:g.109319251_109319253del, NC_000023.10:g.109319252_109319253del, NC_000023.10:g.109319253del, NC_000023.10:g.109319253dup, NC_000023.10:g.109319249_109319253dup

Select item 14913760497.

rs1491376049 has merged into rs201481928 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: X:110147617 (GRCh38)
X:109390845 (GRCh37)
Canonical SPDI:: NC_000023.11:110147609:TTTTTTTTT:TTTTTTT,NC_000023.11:110147609:TTTTTTTTT:TTTTTTTT,NC_000023.11:110147609:TTTTTTTTT:TTTTTTTTTT
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
T=0.00018/4 (TOMMO)
T=0.00437/16 (1000Genomes)
HGVS:: NC_000023.11:g.110147617_110147618del, NC_000023.11:g.110147618del, NC_000023.11:g.110147618dup, NC_000023.10:g.109390845_109390846del, NC_000023.10:g.109390846del, NC_000023.10:g.109390846dup

Select item 14913754718.

rs1491375471 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:110147610 (GRCh38)
X:109390839 (GRCh37)
Canonical SPDI:: NC_000023.11:110147610::C
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00004/4 (GnomAD)
HGVS:: NC_000023.11:g.110147610_110147611insC, NC_000023.10:g.109390838_109390839insC

Select item 14913589909.

rs1491358990 has merged into rs1555984589 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT [Show Flanks]
Chromosome:: X:110017460 (GRCh38)
X:109260688 (GRCh37)
Canonical SPDI:: NC_000023.11:110017444:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000023.11:110017444:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000023.11:110017444:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000023.11:110017444:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:110017444:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000023.11:g.110017446CT[7], NC_000023.11:g.110017446CT[8], NC_000023.11:g.110017446CT[10], NC_000023.11:g.110017446CT[11], NC_000023.11:g.110017446CT[12], NC_000023.10:g.109260674CT[7], NC_000023.10:g.109260674CT[8], NC_000023.10:g.109260674CT[10], NC_000023.10:g.109260674CT[11], NC_000023.10:g.109260674CT[12]

Select item 149135536310.

rs1491355363 has merged into rs59182790 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:110071727 (GRCh38)
X:109314955 (GRCh37)
Canonical SPDI:: NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110071716:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.32794/1216 (TWINSUK)
-=0.351333/1015 (ALSPAC)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000023.11:g.110071727_110071739del, NC_000023.11:g.110071729_110071739del, NC_000023.11:g.110071730_110071739del, NC_000023.11:g.110071731_110071739del, NC_000023.11:g.110071732_110071739del, NC_000023.11:g.110071733_110071739del, NC_000023.11:g.110071734_110071739del, NC_000023.11:g.110071735_110071739del, NC_000023.11:g.110071736_110071739del, NC_000023.11:g.110071737_110071739del, NC_000023.11:g.110071738_110071739del, NC_000023.11:g.110071739del, NC_000023.11:g.110071739dup, NC_000023.11:g.110071738_110071739dup, NC_000023.11:g.110071737_110071739dup, NC_000023.11:g.110071736_110071739dup, NC_000023.11:g.110071735_110071739dup, NC_000023.11:g.110071734_110071739dup, NC_000023.11:g.110071733_110071739dup, NC_000023.11:g.110071732_110071739dup, NC_000023.11:g.110071731_110071739dup, NC_000023.11:g.110071726_110071739dup, NC_000023.10:g.109314955_109314967del, NC_000023.10:g.109314957_109314967del, NC_000023.10:g.109314958_109314967del, NC_000023.10:g.109314959_109314967del, NC_000023.10:g.109314960_109314967del, NC_000023.10:g.109314961_109314967del, NC_000023.10:g.109314962_109314967del, NC_000023.10:g.109314963_109314967del, NC_000023.10:g.109314964_109314967del, NC_000023.10:g.109314965_109314967del, NC_000023.10:g.109314966_109314967del, NC_000023.10:g.109314967del, NC_000023.10:g.109314967dup, NC_000023.10:g.109314966_109314967dup, NC_000023.10:g.109314965_109314967dup, NC_000023.10:g.109314964_109314967dup, NC_000023.10:g.109314963_109314967dup, NC_000023.10:g.109314962_109314967dup, NC_000023.10:g.109314961_109314967dup, NC_000023.10:g.109314960_109314967dup, NC_000023.10:g.109314959_109314967dup, NC_000023.10:g.109314954_109314967dup

Select item 149131464611.

rs1491314646 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAG,GAGAAAGAG,GAGAG,GAGAGAG,GAGAGAGAG,GAGAGAGAGAG [Show Flanks]
Chromosome:: X:110105748 (GRCh38)
X:109348977 (GRCh37)
Canonical SPDI:: NC_000023.11:110105748::GAG,NC_000023.11:110105748::GAGAAAGAG,NC_000023.11:110105748::GAGAG,NC_000023.11:110105748::GAGAGAG,NC_000023.11:110105748::GAGAGAGAG,NC_000023.11:110105748::GAGAGAGAGAG
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
HGVS:: NC_000023.11:g.110105748_110105749insGAG, NC_000023.11:g.110105748_110105749insGAGAAAGAG, NC_000023.11:g.110105748_110105749insGAGAG, NC_000023.11:g.110105748_110105749insGAGAGAG, NC_000023.11:g.110105748_110105749insGAGAGAGAG, NC_000023.11:g.110105748_110105749insGAGAGAGAGAG, NC_000023.10:g.109348976_109348977insGAG, NC_000023.10:g.109348976_109348977insGAGAAAGAG, NC_000023.10:g.109348976_109348977insGAGAG, NC_000023.10:g.109348976_109348977insGAGAGAG, NC_000023.10:g.109348976_109348977insGAGAGAGAG, NC_000023.10:g.109348976_109348977insGAGAGAGAGAG

Select item 149130376012.

rs1491303760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCTTTCTTTCTTTCGCT [Show Flanks]
Chromosome:: X:110017445 (GRCh38)
X:109260674 (GRCh37)
Canonical SPDI:: NC_000023.11:110017445:CT:CTTTCTTTCTTTCTTTCGCT
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.110017446_110017447CTTT[4]CGCT[1], NC_000023.10:g.109260674_109260675CTTT[4]CGCT[1]

Select item 149130375413.

rs1491303754 has merged into rs59866982 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: X:110105769 (GRCh38)
X:109348997 (GRCh37)
Canonical SPDI:: NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:110105750:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000023.11:g.110105751GA[9], NC_000023.11:g.110105751GA[11], NC_000023.11:g.110105751GA[12], NC_000023.11:g.110105751GA[13], NC_000023.11:g.110105751GA[14], NC_000023.11:g.110105751GA[15], NC_000023.11:g.110105751GA[16], NC_000023.11:g.110105751GA[17], NC_000023.11:g.110105751GA[18], NC_000023.11:g.110105751GA[19], NC_000023.11:g.110105751GA[20], NC_000023.11:g.110105751GA[21], NC_000023.11:g.110105751GA[23], NC_000023.11:g.110105751GA[24], NC_000023.11:g.110105751GA[25], NC_000023.11:g.110105751GA[26], NC_000023.11:g.110105751GA[27], NC_000023.11:g.110105751GA[28], NC_000023.11:g.110105751GA[29], NC_000023.10:g.109348979GA[9], NC_000023.10:g.109348979GA[11], NC_000023.10:g.109348979GA[12], NC_000023.10:g.109348979GA[13], NC_000023.10:g.109348979GA[14], NC_000023.10:g.109348979GA[15], NC_000023.10:g.109348979GA[16], NC_000023.10:g.109348979GA[17], NC_000023.10:g.109348979GA[18], NC_000023.10:g.109348979GA[19], NC_000023.10:g.109348979GA[20], NC_000023.10:g.109348979GA[21], NC_000023.10:g.109348979GA[23], NC_000023.10:g.109348979GA[24], NC_000023.10:g.109348979GA[25], NC_000023.10:g.109348979GA[26], NC_000023.10:g.109348979GA[27], NC_000023.10:g.109348979GA[28], NC_000023.10:g.109348979GA[29]

Select item 149125236214.

rs1491252362 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:110058609 (GRCh38)
X:109301837 (GRCh37)
Canonical SPDI:: NC_000023.11:110058607:TCT:T
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.01973/57 (ALSPAC)
-=0.04558/169 (TWINSUK)
HGVS:: NC_000023.11:g.110058609_110058610del, NC_000023.10:g.109301837_109301838del, XM_017029894.3:c.-6882_-6881del

Select item 149124175715.

rs1491241757 has merged into rs56336159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: X:110067170 (GRCh38)
X:109310398 (GRCh37)
Canonical SPDI:: NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000023.11:110067154:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
CA=0.1042/5 (Vietnamese)
CA=0.1528/577 (1000Genomes)
HGVS:: NC_000023.11:g.110067156AC[7], NC_000023.11:g.110067156AC[8], NC_000023.11:g.110067156AC[9], NC_000023.11:g.110067156AC[10], NC_000023.11:g.110067156AC[11], NC_000023.11:g.110067156AC[13], NC_000023.11:g.110067156AC[14], NC_000023.11:g.110067156AC[15], NC_000023.11:g.110067156AC[16], NC_000023.11:g.110067156AC[17], NC_000023.10:g.109310384AC[7], NC_000023.10:g.109310384AC[8], NC_000023.10:g.109310384AC[9], NC_000023.10:g.109310384AC[10], NC_000023.10:g.109310384AC[11], NC_000023.10:g.109310384AC[13], NC_000023.10:g.109310384AC[14], NC_000023.10:g.109310384AC[15], NC_000023.10:g.109310384AC[16], NC_000023.10:g.109310384AC[17]

Select item 149118736116.

rs1491187361 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:110105748 (GRCh38)
X:109348976 (GRCh37)
Canonical SPDI:: NC_000023.11:110105747:AA:
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.110105748_110105749del, NC_000023.10:g.109348976_109348977del

Select item 149117619517.

rs1491176195 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: X:110038008 (GRCh38)
X:109281237 (GRCh37)
Canonical SPDI:: NC_000023.11:110038008::TTA
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTA=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.110038008_110038009insTTA, NC_000023.10:g.109281236_109281237insTTA

Select item 149117301918.

rs1491173019 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:110038008 (GRCh38)
X:109281236 (GRCh37)
Canonical SPDI:: NC_000023.11:110038007:TG:
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.110038008_110038009del, NC_000023.10:g.109281236_109281237del

Select item 149116316719.

rs1491163167 has merged into rs778894073 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: X:110143804 (GRCh38)
X:109387032 (GRCh37)
Canonical SPDI:: NC_000023.11:110143801:GGGG:GG,NC_000023.11:110143801:GGGG:GGGGGG
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.00118/14 (ALFA)
GG=0.00031/4 (TOMMO)
-=0.00129/127 (GnomAD)
HGVS:: NC_000023.11:g.110143804_110143805del, NC_000023.11:g.110143804_110143805dup, NC_000023.10:g.109387032_109387033del, NC_000023.10:g.109387032_109387033dup

Select item 149114009420.

rs1491140094 has merged into rs34824546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:110065005 (GRCh38)
X:109308233 (GRCh37)
Canonical SPDI:: NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:110064994:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM164 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0059/17 (ALSPAC)
HGVS:: NC_000023.11:g.110065005_110065019del, NC_000023.11:g.110065006_110065019del, NC_000023.11:g.110065007_110065019del, NC_000023.11:g.110065008_110065019del, NC_000023.11:g.110065011_110065019del, NC_000023.11:g.110065012_110065019del, NC_000023.11:g.110065013_110065019del, NC_000023.11:g.110065014_110065019del, NC_000023.11:g.110065015_110065019del, NC_000023.11:g.110065016_110065019del, NC_000023.11:g.110065017_110065019del, NC_000023.11:g.110065018_110065019del, NC_000023.11:g.110065019del, NC_000023.11:g.110065019dup, NC_000023.11:g.110065018_110065019dup, NC_000023.11:g.110065017_110065019dup, NC_000023.11:g.110065016_110065019dup, NC_000023.11:g.110065015_110065019dup, NC_000023.11:g.110064996_110065019dup, NC_000023.11:g.110065019_110065020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.109308233_109308247del, NC_000023.10:g.109308234_109308247del, NC_000023.10:g.109308235_109308247del, NC_000023.10:g.109308236_109308247del, NC_000023.10:g.109308239_109308247del, NC_000023.10:g.109308240_109308247del, NC_000023.10:g.109308241_109308247del, NC_000023.10:g.109308242_109308247del, NC_000023.10:g.109308243_109308247del, NC_000023.10:g.109308244_109308247del, NC_000023.10:g.109308245_109308247del, NC_000023.10:g.109308246_109308247del, NC_000023.10:g.109308247del, NC_000023.10:g.109308247dup, NC_000023.10:g.109308246_109308247dup, NC_000023.10:g.109308245_109308247dup, NC_000023.10:g.109308244_109308247dup, NC_000023.10:g.109308243_109308247dup, NC_000023.10:g.109308224_109308247dup, NC_000023.10:g.109308247_109308248insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_017029894.3:c.-486_-472del, XM_017029894.3:c.-485_-472del, XM_017029894.3:c.-484_-472del, XM_017029894.3:c.-483_-472del, XM_017029894.3:c.-480_-472del, XM_017029894.3:c.-479_-472del, XM_017029894.3:c.-478_-472del, XM_017029894.3:c.-477_-472del, XM_017029894.3:c.-476_-472del, XM_017029894.3:c.-475_-472del, XM_017029894.3:c.-474_-472del, XM_017029894.3:c.-473_-472del, XM_017029894.3:c.-472del, XM_017029894.3:c.-472dup, XM_017029894.3:c.-473_-472dup, XM_017029894.3:c.-474_-472dup, XM_017029894.3:c.-475_-472dup, XM_017029894.3:c.-476_-472dup, XM_017029894.3:c.-495_-472dup, XM_017029894.3:c.-472_-471insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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