SNP Links for Gene (Select 283471) - SNP

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Items: 1 to 20 of 1000

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Select item 14915720411.

rs1491572041 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:50872519 (GRCh38)
12:51266302 (GRCh37)
Canonical SPDI:: NC_000012.12:50872518:CA:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.50872519_50872520del, NC_000012.11:g.51266302_51266303del

Select item 14915625432.

rs1491562543 has merged into rs1491074822 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 12:50872846 (GRCh38)
12:51266629 (GRCh37)
Canonical SPDI:: NC_000012.12:50872842:TATATAT:TAT,NC_000012.12:50872842:TATATAT:TATAT,NC_000012.12:50872842:TATATAT:TATATATAT
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TA=0.00008/1 (GnomAD)
HGVS:: NC_000012.12:g.50872844AT[1], NC_000012.12:g.50872844AT[2], NC_000012.12:g.50872844AT[4], NC_000012.11:g.51266627AT[1], NC_000012.11:g.51266627AT[2], NC_000012.11:g.51266627AT[4]

Select item 14915337683.

rs1491533768 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:50872909 (GRCh38)
12:51266692 (GRCh37)
Canonical SPDI:: NC_000012.12:50872908:CT:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.50872909_50872910del, NC_000012.11:g.51266692_51266693del

Select item 14915334364.

rs1491533436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:50872835 (GRCh38)
12:51266618 (GRCh37)
Canonical SPDI:: NC_000012.12:50872828:ATATATAT:ATATAT,NC_000012.12:50872828:ATATATAT:ATATATATAT
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATAT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.50872829AT[3], NC_000012.12:g.50872829AT[5], NC_000012.11:g.51266612AT[3], NC_000012.11:g.51266612AT[5]

Select item 14915274725.

rs1491527472 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:50870851 (GRCh38)
12:51264634 (GRCh37)
Canonical SPDI:: NC_000012.12:50870850:CA:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00031/5 (ALFA)
HGVS:: NC_000012.12:g.50870851_50870852del, NC_000012.11:g.51264634_51264635del

Select item 14915257046.

rs1491525704 has merged into rs71669471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 12:50872959 (GRCh38)
12:51266742 (GRCh37)
Canonical SPDI:: NC_000012.12:50872953:TATATATAT:TATAT,NC_000012.12:50872953:TATATATAT:TATATAT,NC_000012.12:50872953:TATATATAT:TATATATATAT
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.000142/2 (TOMMO)
-=0.001958/248 (GnomAD)
HGVS:: NC_000012.12:g.50872955AT[2], NC_000012.12:g.50872955AT[3], NC_000012.12:g.50872955AT[5], NC_000012.11:g.51266738AT[2], NC_000012.11:g.51266738AT[3], NC_000012.11:g.51266738AT[5]

Select item 14915212897.

rs1491521289 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:50872794 (GRCh38)
12:51266577 (GRCh37)
Canonical SPDI:: NC_000012.12:50872793:GT:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.50872794_50872795del, NC_000012.11:g.51266577_51266578del

Select item 14915110418.

rs1491511041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAA [Show Flanks]
Chromosome:: 12:50875490 (GRCh38)
12:51269274 (GRCh37)
Canonical SPDI:: NC_000012.12:50875490:AAAAAAAA:AAAAAAAAGAAAAAAAA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAGAAAAAAAA=0./0 (ALFA)
AAAAAAAAG=0.00003/1 (GnomAD)
HGVS:: NC_000012.12:g.50875491_50875498A[8]GAAAAAAAA[1], NC_000012.11:g.51269274_51269281A[8]GAAAAAAAA[1]

Select item 14914818079.

rs1491481807 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:50872705 (GRCh38)
12:51266488 (GRCh37)
Canonical SPDI:: NC_000012.12:50872701:TATAT:TAT,NC_000012.12:50872701:TATAT:TATATAT
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.06264/743 (ALFA)
-=0./0 (TWINSUK)
-=0.00026/1 (ALSPAC)
HGVS:: NC_000012.12:g.50872703AT[1], NC_000012.12:g.50872703AT[3], NC_000012.11:g.51266486AT[1], NC_000012.11:g.51266486AT[3]

Select item 149142616110.

rs1491426161 has merged into rs71669471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 12:50872959 (GRCh38)
12:51266742 (GRCh37)
Canonical SPDI:: NC_000012.12:50872953:TATATATAT:TATAT,NC_000012.12:50872953:TATATATAT:TATATAT,NC_000012.12:50872953:TATATATAT:TATATATATAT
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.000142/2 (TOMMO)
-=0.001958/248 (GnomAD)
HGVS:: NC_000012.12:g.50872955AT[2], NC_000012.12:g.50872955AT[3], NC_000012.12:g.50872955AT[5], NC_000012.11:g.51266738AT[2], NC_000012.11:g.51266738AT[3], NC_000012.11:g.51266738AT[5]

Select item 149142198511.

rs1491421985 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACGTCTATATA [Show Flanks]
Chromosome:: 12:50872829 (GRCh38)
12:51266613 (GRCh37)
Canonical SPDI:: NC_000012.12:50872829:TATATA:TATATAGACGTCTATATA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TATATAGACGTC=0.000267/27 (GnomAD)
HGVS:: NC_000012.12:g.50872830_50872835TA[3]GACGTCTATATA[1], NC_000012.11:g.51266613_51266618TA[3]GACGTCTATATA[1]

Select item 149137380612.

rs1491373806 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 12:50872771 (GRCh38)
12:51266555 (GRCh37)
Canonical SPDI:: NC_000012.12:50872771::CA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0.0054/64 (ALFA)
HGVS:: NC_000012.12:g.50872771_50872772insCA, NC_000012.11:g.51266554_51266555insCA

Select item 149131886913.

rs1491318869 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:50872596 (GRCh38)
12:51266379 (GRCh37)
Canonical SPDI:: NC_000012.12:50872595:GT:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.50872596_50872597del, NC_000012.11:g.51266379_51266380del

Select item 149130003414.

rs1491300034 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:50870087 (GRCh38)
12:51263871 (GRCh37)
Canonical SPDI:: NC_000012.12:50870087:GGGGG:GGGGGG
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.50870092dup, NC_000012.11:g.51263875dup

Select item 149127740715.

rs1491277407 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:50872771 (GRCh38)
12:51266554 (GRCh37)
Canonical SPDI:: NC_000012.12:50872770:GT:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.50872771_50872772del, NC_000012.11:g.51266554_51266555del

Select item 149127545716.

rs1491275457 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:50882286 (GRCh38)
12:51276069 (GRCh37)
Canonical SPDI:: NC_000012.12:50882285:TA:
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.50882286_50882287del, NC_000012.11:g.51276069_51276070del

Select item 149126290317.

rs1491262903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:50872843 (GRCh38)
12:51266627 (GRCh37)
Canonical SPDI:: NC_000012.12:50872843:A:AA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50872844dup, NC_000012.11:g.51266627dup

Select item 149125770718.

rs1491257707 has merged into rs56816598 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:50875501 (GRCh38)
12:51269284 (GRCh37)
Canonical SPDI:: NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50875489:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.50875501_50875507del, NC_000012.12:g.50875502_50875507del, NC_000012.12:g.50875503_50875507del, NC_000012.12:g.50875504_50875507del, NC_000012.12:g.50875505_50875507del, NC_000012.12:g.50875506_50875507del, NC_000012.12:g.50875507del, NC_000012.12:g.50875507dup, NC_000012.12:g.50875506_50875507dup, NC_000012.12:g.50875505_50875507dup, NC_000012.12:g.50875504_50875507dup, NC_000012.12:g.50875503_50875507dup, NC_000012.12:g.50875502_50875507dup, NC_000012.12:g.50875501_50875507dup, NC_000012.12:g.50875500_50875507dup, NC_000012.12:g.50875499_50875507dup, NC_000012.12:g.50875498_50875507dup, NC_000012.12:g.50875497_50875507dup, NC_000012.12:g.50875496_50875507dup, NC_000012.12:g.50875494_50875507dup, NC_000012.12:g.50875493_50875507dup, NC_000012.12:g.50875492_50875507dup, NC_000012.11:g.51269284_51269290del, NC_000012.11:g.51269285_51269290del, NC_000012.11:g.51269286_51269290del, NC_000012.11:g.51269287_51269290del, NC_000012.11:g.51269288_51269290del, NC_000012.11:g.51269289_51269290del, NC_000012.11:g.51269290del, NC_000012.11:g.51269290dup, NC_000012.11:g.51269289_51269290dup, NC_000012.11:g.51269288_51269290dup, NC_000012.11:g.51269287_51269290dup, NC_000012.11:g.51269286_51269290dup, NC_000012.11:g.51269285_51269290dup, NC_000012.11:g.51269284_51269290dup, NC_000012.11:g.51269283_51269290dup, NC_000012.11:g.51269282_51269290dup, NC_000012.11:g.51269281_51269290dup, NC_000012.11:g.51269280_51269290dup, NC_000012.11:g.51269279_51269290dup, NC_000012.11:g.51269277_51269290dup, NC_000012.11:g.51269276_51269290dup, NC_000012.11:g.51269275_51269290dup

Select item 149122280919.

rs1491222809 has merged into rs59323134 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:50882295 (GRCh38)
12:51276078 (GRCh37)
Canonical SPDI:: NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50882286:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000012.12:g.50882295_50882313del, NC_000012.12:g.50882297_50882313del, NC_000012.12:g.50882298_50882313del, NC_000012.12:g.50882300_50882313del, NC_000012.12:g.50882301_50882313del, NC_000012.12:g.50882303_50882313del, NC_000012.12:g.50882304_50882313del, NC_000012.12:g.50882306_50882313del, NC_000012.12:g.50882307_50882313del, NC_000012.12:g.50882308_50882313del, NC_000012.12:g.50882309_50882313del, NC_000012.12:g.50882310_50882313del, NC_000012.12:g.50882311_50882313del, NC_000012.12:g.50882312_50882313del, NC_000012.12:g.50882313del, NC_000012.12:g.50882313dup, NC_000012.12:g.50882312_50882313dup, NC_000012.12:g.50882310_50882313dup, NC_000012.12:g.50882308_50882313dup, NC_000012.12:g.50882303_50882313dup, NC_000012.11:g.51276078_51276096del, NC_000012.11:g.51276080_51276096del, NC_000012.11:g.51276081_51276096del, NC_000012.11:g.51276083_51276096del, NC_000012.11:g.51276084_51276096del, NC_000012.11:g.51276086_51276096del, NC_000012.11:g.51276087_51276096del, NC_000012.11:g.51276089_51276096del, NC_000012.11:g.51276090_51276096del, NC_000012.11:g.51276091_51276096del, NC_000012.11:g.51276092_51276096del, NC_000012.11:g.51276093_51276096del, NC_000012.11:g.51276094_51276096del, NC_000012.11:g.51276095_51276096del, NC_000012.11:g.51276096del, NC_000012.11:g.51276096dup, NC_000012.11:g.51276095_51276096dup, NC_000012.11:g.51276093_51276096dup, NC_000012.11:g.51276091_51276096dup, NC_000012.11:g.51276086_51276096dup

Select item 149121944420.

rs1491219444 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:50872954 (GRCh38)
12:51266738 (GRCh37)
Canonical SPDI:: NC_000012.12:50872954::C
Gene:: TMPRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50872954_50872955insC, NC_000012.11:g.51266737_51266738insC

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