SNP Links for Gene (Select 3251) - SNP

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Select item 14915228211.

rs1491522821 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: X:134477407 (GRCh38)
X:133611437 (GRCh37)
Canonical SPDI:: NC_000023.11:134477402:TATATA:TATA
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.000071/1 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.134477403TA[2], NC_000023.10:g.133611433TA[2], NG_012329.2:g.22259TA[2]

Select item 14915125962.

rs1491512596 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:134474421 (GRCh38)
X:133608452 (GRCh37)
Canonical SPDI:: NC_000023.11:134474421::C
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.134474421_134474422insC, NC_000023.10:g.133608451_133608452insC, NG_012329.2:g.19277_19278insC

Select item 14914401183.

rs1491440118 has merged into rs150188289 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:134468766 (GRCh38)
X:133602796 (GRCh37)
Canonical SPDI:: NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134468754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.134468766_134468776del, NC_000023.11:g.134468767_134468776del, NC_000023.11:g.134468770_134468776del, NC_000023.11:g.134468771_134468776del, NC_000023.11:g.134468773_134468776del, NC_000023.11:g.134468774_134468776del, NC_000023.11:g.134468775_134468776del, NC_000023.11:g.134468776del, NC_000023.11:g.134468776dup, NC_000023.11:g.134468775_134468776dup, NC_000023.11:g.134468774_134468776dup, NC_000023.11:g.134468773_134468776dup, NC_000023.10:g.133602796_133602806del, NC_000023.10:g.133602797_133602806del, NC_000023.10:g.133602800_133602806del, NC_000023.10:g.133602801_133602806del, NC_000023.10:g.133602803_133602806del, NC_000023.10:g.133602804_133602806del, NC_000023.10:g.133602805_133602806del, NC_000023.10:g.133602806del, NC_000023.10:g.133602806dup, NC_000023.10:g.133602805_133602806dup, NC_000023.10:g.133602804_133602806dup, NC_000023.10:g.133602803_133602806dup, NG_012329.2:g.13622_13632del, NG_012329.2:g.13623_13632del, NG_012329.2:g.13626_13632del, NG_012329.2:g.13627_13632del, NG_012329.2:g.13629_13632del, NG_012329.2:g.13630_13632del, NG_012329.2:g.13631_13632del, NG_012329.2:g.13632del, NG_012329.2:g.13632dup, NG_012329.2:g.13631_13632dup, NG_012329.2:g.13630_13632dup, NG_012329.2:g.13629_13632dup

Select item 14914122324.

rs1491412232 has merged into rs746868883 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAATA>-,TAATATAATA [Show Flanks]
Chromosome:: X:134477412 (GRCh38)
X:133611442 (GRCh37)
Canonical SPDI:: NC_000023.11:134477403:ATATAATATAATA:ATATAATA,NC_000023.11:134477403:ATATAATATAATA:ATATAATATAATATAATA
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAATATAATATAATA=0./0 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.00069/2 (ALSPAC)
HGVS:: NC_000023.11:g.134477407TAATA[1], NC_000023.11:g.134477407TAATA[3], NC_000023.10:g.133611437TAATA[1], NC_000023.10:g.133611437TAATA[3], NG_012329.2:g.22263TAATA[1], NG_012329.2:g.22263TAATA[3]

Select item 14913069915.

rs1491306991 has merged into rs5903877 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: X:134474432 (GRCh38)
X:133608462 (GRCh37)
Canonical SPDI:: NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:134474420:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.418/1578 (1000Genomes)
HGVS:: NC_000023.11:g.134474432_134474436del, NC_000023.11:g.134474433_134474436del, NC_000023.11:g.134474434_134474436del, NC_000023.11:g.134474435_134474436del, NC_000023.11:g.134474436del, NC_000023.11:g.134474436dup, NC_000023.11:g.134474435_134474436dup, NC_000023.11:g.134474434_134474436dup, NC_000023.11:g.134474433_134474436dup, NC_000023.11:g.134474432_134474436dup, NC_000023.10:g.133608462_133608466del, NC_000023.10:g.133608463_133608466del, NC_000023.10:g.133608464_133608466del, NC_000023.10:g.133608465_133608466del, NC_000023.10:g.133608466del, NC_000023.10:g.133608466dup, NC_000023.10:g.133608465_133608466dup, NC_000023.10:g.133608464_133608466dup, NC_000023.10:g.133608463_133608466dup, NC_000023.10:g.133608462_133608466dup, NG_012329.2:g.19288_19292del, NG_012329.2:g.19289_19292del, NG_012329.2:g.19290_19292del, NG_012329.2:g.19291_19292del, NG_012329.2:g.19292del, NG_012329.2:g.19292dup, NG_012329.2:g.19291_19292dup, NG_012329.2:g.19290_19292dup, NG_012329.2:g.19289_19292dup, NG_012329.2:g.19288_19292dup

Select item 14912867356.

rs1491286735 has merged into rs34981310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: X:134458192 (GRCh38)
X:133592222 (GRCh37)
Canonical SPDI:: NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:134458177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HPRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1258/475 (1000Genomes)
HGVS:: NC_000023.11:g.134458192_134458193del, NC_000023.11:g.134458193del, NC_000023.11:g.134458193dup, NC_000023.11:g.134458192_134458193dup, NC_000023.11:g.134458191_134458193dup, NC_000023.11:g.134458190_134458193dup, NC_000023.11:g.134458189_134458193dup, NC_000023.11:g.134458188_134458193dup, NC_000023.11:g.134458187_134458193dup, NC_000023.11:g.134458185_134458193dup, NC_000023.10:g.133592222_133592223del, NC_000023.10:g.133592223del, NC_000023.10:g.133592223dup, NC_000023.10:g.133592222_133592223dup, NC_000023.10:g.133592221_133592223dup, NC_000023.10:g.133592220_133592223dup, NC_000023.10:g.133592219_133592223dup, NC_000023.10:g.133592218_133592223dup, NC_000023.10:g.133592217_133592223dup, NC_000023.10:g.133592215_133592223dup, NG_012329.2:g.3048_3049del, NG_012329.2:g.3049del, NG_012329.2:g.3049dup, NG_012329.2:g.3048_3049dup, NG_012329.2:g.3047_3049dup, NG_012329.2:g.3046_3049dup, NG_012329.2:g.3045_3049dup, NG_012329.2:g.3044_3049dup, NG_012329.2:g.3043_3049dup, NG_012329.2:g.3041_3049dup

Select item 14912794317.

rs1491279431 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:134468754 (GRCh38)
X:133602784 (GRCh37)
Canonical SPDI:: NC_000023.11:134468753:CA:
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.134468754_134468755del, NC_000023.10:g.133602784_133602785del, NG_012329.2:g.13610_13611del

Select item 14912678298.

rs1491267829 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAA [Show Flanks]
Chromosome:: X:134458178 (GRCh38)
X:133592209 (GRCh37)
Canonical SPDI:: NC_000023.11:134458178:AAA:AAAGAAA
Gene:: HPRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAA=0./0 (ALFA)
AAAG=0.000004/1 (TOPMED)
AAAG=0.000065/2 (GnomAD)
HGVS:: NC_000023.11:g.134458181_134458182insGAAA, NC_000023.10:g.133592211_133592212insGAAA, NG_012329.2:g.3037_3038insGAAA

Select item 14910554479.

rs1491055447 has merged into rs747102499 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATATAT [Show Flanks]
Chromosome:: X:134481521 (GRCh38)
X:133615551 (GRCh37)
Canonical SPDI:: NC_000023.11:134481519:TAT:T,NC_000023.11:134481519:TAT:TATATAT
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
TATA=0.07407/214 (ALSPAC)
ATAT=0.09736/361 (TWINSUK)
HGVS:: NC_000023.11:g.134481521_134481522del, NC_000023.11:g.134481521AT[3], NC_000023.10:g.133615551_133615552del, NC_000023.10:g.133615551AT[3], NG_012329.2:g.26377_26378del, NG_012329.2:g.26377AT[3]

Select item 149096487010.

rs1490964870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:134479574 (GRCh38)
X:133613604 (GRCh37)
Canonical SPDI:: NC_000023.11:134479573:G:T
Gene:: HPRT1 (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.134479574G>T, NC_000023.10:g.133613604G>T, NG_012329.2:g.24430G>T

Select item 149090729811.

rs1490907298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:134497339 (GRCh38)
X:133631369 (GRCh37)
Canonical SPDI:: NC_000023.11:134497338:G:A
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.134497339G>A, NC_000023.10:g.133631369G>A, NG_012329.2:g.42195G>A

Select item 149075834312.

rs1490758343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134491555 (GRCh38)
X:133625585 (GRCh37)
Canonical SPDI:: NC_000023.11:134491554:A:G
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134491555A>G, NC_000023.10:g.133625585A>G, NG_012329.2:g.36411A>G

Select item 149060080713.

rs1490600807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134468275 (GRCh38)
X:133602305 (GRCh37)
Canonical SPDI:: NC_000023.11:134468274:T:C
Gene:: HPRT1 (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.134468275T>C, NC_000023.10:g.133602305T>C, NG_012329.2:g.13131T>C

Select item 149045598714.

rs1490455987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:134468535 (GRCh38)
X:133602565 (GRCh37)
Canonical SPDI:: NC_000023.11:134468534:C:A,NC_000023.11:134468534:C:T
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
HGVS:: NC_000023.11:g.134468535C>A, NC_000023.11:g.134468535C>T, NC_000023.10:g.133602565C>A, NC_000023.10:g.133602565C>T, NG_012329.2:g.13391C>A, NG_012329.2:g.13391C>T

Select item 149026435115.

rs1490264351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134491985 (GRCh38)
X:133626015 (GRCh37)
Canonical SPDI:: NC_000023.11:134491984:A:G
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.134491985A>G, NC_000023.10:g.133626015A>G, NG_012329.2:g.36841A>G

Select item 149007662716.

rs1490076627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134459674 (GRCh38)
X:133593704 (GRCh37)
Canonical SPDI:: NC_000023.11:134459673:A:G
Gene:: HPRT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.134459674A>G, NC_000023.10:g.133593704A>G, NG_012329.2:g.4530A>G

Select item 149004561917.

rs1490045619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:134460518 (GRCh38)
X:133594548 (GRCh37)
Canonical SPDI:: NC_000023.11:134460517:G:A
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.134460518G>A, NC_000023.10:g.133594548G>A, NG_012329.2:g.5374G>A, NG_046339.1:g.537G>A

Select item 149003740518.

rs1490037405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134492162 (GRCh38)
X:133626192 (GRCh37)
Canonical SPDI:: NC_000023.11:134492161:A:G
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00013/2 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.134492162A>G, NC_000023.10:g.133626192A>G, NG_012329.2:g.37018A>G

Select item 148992470219.

rs1489924702 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: X:134494272 (GRCh38)
X:133628302 (GRCh37)
Canonical SPDI:: NC_000023.11:134494271:AA:
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134494272_134494273del, NC_000023.10:g.133628302_133628303del, NG_012329.2:g.39128_39129del

Select item 148987313020.

rs1489873130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134490981 (GRCh38)
X:133625011 (GRCh37)
Canonical SPDI:: NC_000023.11:134490980:T:C
Gene:: HPRT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134490981T>C, NC_000023.10:g.133625011T>C, NG_012329.2:g.35837T>C

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