SNP Links for Gene (Select 101059938) - SNP

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Select item 14915422661.

rs1491542266 has merged into rs1197508092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 16:16386460 (GRCh38)
16:16480317 (GRCh37)
Canonical SPDI:: NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:16386447:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.16386460_16386468del, NC_000016.10:g.16386461_16386468del, NC_000016.10:g.16386463_16386468del, NC_000016.10:g.16386465_16386468del, NC_000016.10:g.16386466_16386468del, NC_000016.10:g.16386467_16386468del, NC_000016.10:g.16386468del, NC_000016.10:g.16386468dup, NC_000016.10:g.16386467_16386468dup, NC_000016.9:g.16480317_16480325del, NC_000016.9:g.16480318_16480325del, NC_000016.9:g.16480320_16480325del, NC_000016.9:g.16480322_16480325del, NC_000016.9:g.16480323_16480325del, NC_000016.9:g.16480324_16480325del, NC_000016.9:g.16480325del, NC_000016.9:g.16480325dup, NC_000016.9:g.16480324_16480325dup, NT_187607.1:g.2047501_2047509del, NT_187607.1:g.2047502_2047509del, NT_187607.1:g.2047504_2047509del, NT_187607.1:g.2047506_2047509del, NT_187607.1:g.2047507_2047509del, NT_187607.1:g.2047508_2047509del, NT_187607.1:g.2047509del, NT_187607.1:g.2047509dup, NT_187607.1:g.2047508_2047509dup

Select item 14914991682.

rs1491499168 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:16387059 (GRCh38)
16:16480917 (GRCh37)
Canonical SPDI:: NC_000016.10:16387059::G
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.0002/1 (1000Genomes)
HGVS:: NC_000016.10:g.16387059_16387060insG, NC_000016.9:g.16480916_16480917insG, NT_187607.1:g.2048100_2048101insG

Select item 14914373063.

rs1491437306 has merged into rs1395617406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 16:16387060 (GRCh38)
16:16480917 (GRCh37)
Canonical SPDI:: NC_000016.10:16387058:TTT:T,NC_000016.10:16387058:TTT:TT,NC_000016.10:16387058:TTT:TTTTT
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000254/7 (TOMMO)
HGVS:: NC_000016.10:g.16387060_16387061del, NC_000016.10:g.16387061del, NC_000016.10:g.16387060_16387061dup, NC_000016.9:g.16480917_16480918del, NC_000016.9:g.16480918del, NC_000016.9:g.16480917_16480918dup

Select item 14913418664.

rs1491341866 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:16388052 (GRCh38)
16:16481910 (GRCh37)
Canonical SPDI:: NC_000016.10:16388052::C
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00037/7 (GnomAD)
HGVS:: NC_000016.10:g.16388052_16388053insC, NC_000016.9:g.16481909_16481910insC, NT_187607.1:g.2049094_2049095insC

Select item 14911796025.

rs1491179602 has merged into rs1252652575 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:16388062 (GRCh38)
16:16481919 (GRCh37)
Canonical SPDI:: NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.00073/8 (TOMMO)
HGVS:: NC_000016.10:g.16388062_16388069del, NC_000016.10:g.16388065_16388069del, NC_000016.10:g.16388066_16388069del, NC_000016.10:g.16388067_16388069del, NC_000016.10:g.16388068_16388069del, NC_000016.10:g.16388069del, NC_000016.10:g.16388069dup, NC_000016.10:g.16388068_16388069dup, NC_000016.10:g.16388067_16388069dup, NC_000016.10:g.16388066_16388069dup, NC_000016.9:g.16481919_16481926del, NC_000016.9:g.16481922_16481926del, NC_000016.9:g.16481923_16481926del, NC_000016.9:g.16481924_16481926del, NC_000016.9:g.16481925_16481926del, NC_000016.9:g.16481926del, NC_000016.9:g.16481926dup, NC_000016.9:g.16481925_16481926dup, NC_000016.9:g.16481924_16481926dup, NC_000016.9:g.16481923_16481926dup, NT_187607.1:g.2049104_2049111del, NT_187607.1:g.2049107_2049111del, NT_187607.1:g.2049108_2049111del, NT_187607.1:g.2049109_2049111del, NT_187607.1:g.2049110_2049111del, NT_187607.1:g.2049111del, NT_187607.1:g.2049111dup, NT_187607.1:g.2049110_2049111dup, NT_187607.1:g.2049109_2049111dup, NT_187607.1:g.2049108_2049111dup

Select item 14911166536.

rs1491116653 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:16386447 (GRCh38)
16:16480304 (GRCh37)
Canonical SPDI:: NC_000016.10:16386446:AT:
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00031/5 (TOMMO)
HGVS:: NC_000016.10:g.16386447_16386448del, NC_000016.9:g.16480304_16480305del, NT_187607.1:g.2047488_2047489del

Select item 14908254547.

rs1490825454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:16388460 (GRCh38)
16:16482317 (GRCh37)
Canonical SPDI:: NC_000016.10:16388459:G:A,NC_000016.10:16388459:G:C,NC_000016.10:16388459:G:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00295/35 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00229/29 (GnomAD)
A=0.00422/27 (1000Genomes)
C=0.01111/21 (KOREAN)
HGVS:: NC_000016.10:g.16388460G>A, NC_000016.10:g.16388460G>C, NC_000016.10:g.16388460G>T, NC_000016.9:g.16482317G>A, NC_000016.9:g.16482317G>C, NC_000016.9:g.16482317G>T, NT_187607.1:g.2049502G>A, NT_187607.1:g.2049502G>C, NT_187607.1:g.2049502G>T

Select item 14907955358.

rs1490795535 has merged into rs1252652575 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:16388062 (GRCh38)
16:16481919 (GRCh37)
Canonical SPDI:: NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:16388051:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.00073/8 (TOMMO)
HGVS:: NC_000016.10:g.16388062_16388069del, NC_000016.10:g.16388065_16388069del, NC_000016.10:g.16388066_16388069del, NC_000016.10:g.16388067_16388069del, NC_000016.10:g.16388068_16388069del, NC_000016.10:g.16388069del, NC_000016.10:g.16388069dup, NC_000016.10:g.16388068_16388069dup, NC_000016.10:g.16388067_16388069dup, NC_000016.10:g.16388066_16388069dup, NC_000016.9:g.16481919_16481926del, NC_000016.9:g.16481922_16481926del, NC_000016.9:g.16481923_16481926del, NC_000016.9:g.16481924_16481926del, NC_000016.9:g.16481925_16481926del, NC_000016.9:g.16481926del, NC_000016.9:g.16481926dup, NC_000016.9:g.16481925_16481926dup, NC_000016.9:g.16481924_16481926dup, NC_000016.9:g.16481923_16481926dup, NT_187607.1:g.2049104_2049111del, NT_187607.1:g.2049107_2049111del, NT_187607.1:g.2049108_2049111del, NT_187607.1:g.2049109_2049111del, NT_187607.1:g.2049110_2049111del, NT_187607.1:g.2049111del, NT_187607.1:g.2049111dup, NT_187607.1:g.2049110_2049111dup, NT_187607.1:g.2049109_2049111dup, NT_187607.1:g.2049108_2049111dup

Select item 14906656049.

rs1490665604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:16391395 (GRCh38)
16:16485252 (GRCh37)
Canonical SPDI:: NC_000016.10:16391394:T:C
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.24709/2931 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.16204/427 (TOMMO)
T=0.41159/270 (KOREAN)
HGVS:: NC_000016.10:g.16391395T>C, NC_000016.9:g.16485252T>C, NT_187607.1:g.2052437T>C

Select item 149063347510.

rs1490633475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:16388336 (GRCh38)
16:16482193 (GRCh37)
Canonical SPDI:: NC_000016.10:16388335:C:G,NC_000016.10:16388335:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.16388336C>G, NC_000016.10:g.16388336C>T, NC_000016.9:g.16482193C>G, NC_000016.9:g.16482193C>T, NT_187607.1:g.2049378C>G, NT_187607.1:g.2049378C>T

Select item 149051499311.

rs1490514993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:16387339 (GRCh38)
16:16481196 (GRCh37)
Canonical SPDI:: NC_000016.10:16387338:C:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000052/7 (GnomAD)
G=0.000072/19 (TOPMED)
G=0.000937/6 (1000Genomes)
HGVS:: NC_000016.10:g.16387339C>G, NC_000016.9:g.16481196C>G, NT_187607.1:g.2048382C>G

Select item 149024776812.

rs1490247768 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:16386468 (GRCh38)
16:16480325 (GRCh37)
Canonical SPDI:: NC_000016.10:16386467:TG:
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01045/124 (ALFA)
-=0.00092/23 (TOMMO)
-=0.0015/70 (GnomAD)
HGVS:: NC_000016.10:g.16386468_16386469del, NC_000016.9:g.16480325_16480326del, NT_187607.1:g.2047509_2047510del

Select item 148942777213.

rs1489427772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16387296 (GRCh38)
16:16481153 (GRCh37)
Canonical SPDI:: NC_000016.10:16387295:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/6 (GnomAD)
G=0.000312/2 (1000Genomes)
G=0.001226/20 (TOMMO)
G=0.001382/4 (KOREAN)
HGVS:: NC_000016.10:g.16387296A>G, NC_000016.9:g.16481153A>G, NT_187607.1:g.2048339A>G

Select item 148928052914.

rs1489280529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:16381223 (GRCh38)
16:16475080 (GRCh37)
Canonical SPDI:: NC_000016.10:16381222:G:A,NC_000016.10:16381222:G:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.16381223G>A, NC_000016.10:g.16381223G>T, NC_000016.9:g.16475080G>A, NC_000016.9:g.16475080G>T, NT_187607.1:g.2042270G>A, NT_187607.1:g.2042270G>T

Select item 148834699715.

rs1488346997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:16376254 (GRCh38)
16:16470111 (GRCh37)
Canonical SPDI:: NC_000016.10:16376253:C:A,NC_000016.10:16376253:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/3 (ALFA)
T=0.00007/1 (TOMMO)
T=0.00062/4 (1000Genomes)
HGVS:: NC_000016.10:g.16376254C>A, NC_000016.10:g.16376254C>T, NC_000016.9:g.16470111C>A, NC_000016.9:g.16470111C>T, NG_002795.4:g.19938C>A, NG_002795.4:g.19938C>T, NT_187607.1:g.2037301C>A, NT_187607.1:g.2037301C>T

Select item 148833831816.

rs1488338318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16386099 (GRCh38)
16:16479956 (GRCh37)
Canonical SPDI:: NC_000016.10:16386098:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.16386099A>G, NC_000016.9:g.16479956A>G, NT_187607.1:g.2047140A>G

Select item 148801575617.

rs1488015756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16376456 (GRCh38)
16:16470313 (GRCh37)
Canonical SPDI:: NC_000016.10:16376455:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000061/1 (TOMMO)
HGVS:: NC_000016.10:g.16376456G>A, NC_000016.9:g.16470313G>A, NG_002795.4:g.20140G>A, NT_187607.1:g.2037503G>A

Select item 148780085118.

rs1487800851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:16388070 (GRCh38)
16:16481927 (GRCh37)
Canonical SPDI:: NC_000016.10:16388069:C:A,NC_000016.10:16388069:C:G,NC_000016.10:16388069:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.11004/239 (KOREAN)
HGVS:: NC_000016.10:g.16388070C>A, NC_000016.10:g.16388070C>G, NC_000016.10:g.16388070C>T, NC_000016.9:g.16481927C>A, NC_000016.9:g.16481927C>G, NC_000016.9:g.16481927C>T, NT_187607.1:g.2049112C>A, NT_187607.1:g.2049112C>G, NT_187607.1:g.2049112C>T

Select item 148748055419.

rs1487480554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:16388047 (GRCh38)
16:16481904 (GRCh37)
Canonical SPDI:: NC_000016.10:16388046:C:G,NC_000016.10:16388046:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
HGVS:: NC_000016.10:g.16388047C>G, NC_000016.10:g.16388047C>T, NC_000016.9:g.16481904C>G, NC_000016.9:g.16481904C>T, NT_187607.1:g.2049090C>G, NT_187607.1:g.2049090C>T

Select item 148743007020.

rs1487430070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:16388617 (GRCh38)
16:16482474 (GRCh37)
Canonical SPDI:: NC_000016.10:16388616:G:A,NC_000016.10:16388616:G:C
Gene:: NPIPA7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0./0 (Korea1K)
A=0.00046/6 (TOMMO)
C=0.02028/29 (KOREAN)
HGVS:: NC_000016.10:g.16388617G>A, NC_000016.10:g.16388617G>C, NC_000016.9:g.16482474G>A, NC_000016.9:g.16482474G>C, NT_187607.1:g.2049659G>A, NT_187607.1:g.2049659G>C

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