SNP Links for Gene (Select 642929) - SNP

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Items: 1 to 20 of 2121

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Select item 14914014511.

rs1491401451 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:66159683 (GRCh38)
9:43140261 (GRCh37)
Canonical SPDI:: NC_000009.12:66159681:ACA:A
Gene:: LOC642929 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.19499/2313 (ALFA)
-=0.37802/6336 (TOMMO)
HGVS:: NC_000009.12:g.66159683_66159684del, NC_000009.11:g.43140261_43140262del

Select item 14913651242.

rs1491365124 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:66159682 (GRCh38)
9:43140261 (GRCh37)
Canonical SPDI:: NC_000009.12:66159682:C:CC
Gene:: LOC642929 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000009.12:g.66159683dup, NC_000009.11:g.43140261dup

Select item 14913309713.

rs1491330971 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:66160344 (GRCh38)
9:43140922 (GRCh37)
Canonical SPDI:: NC_000009.12:66160343:AG:
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.00003/4 (GnomAD)
HGVS:: NC_000009.12:g.66160344_66160345del, NC_000009.11:g.43140922_43140923del

Select item 14908811664.

rs1490881166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:66162760 (GRCh38)
9:43143338 (GRCh37)
Canonical SPDI:: NC_000009.12:66162759:A:G,NC_000009.12:66162759:A:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000009.12:g.66162760A>G, NC_000009.12:g.66162760A>T, NC_000009.11:g.43143338A>G, NC_000009.11:g.43143338A>T

Select item 14904991945.

rs1490499194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:66163566 (GRCh38)
9:43144144 (GRCh37)
Canonical SPDI:: NC_000009.12:66163565:A:G
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.66163566A>G, NC_000009.11:g.43144144A>G

Select item 14903436236.

rs1490343623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:66166429 (GRCh38)
9:43147007 (GRCh37)
Canonical SPDI:: NC_000009.12:66166428:C:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.66166429C>T, NC_000009.11:g.43147007C>T

Select item 14901382487.

rs1490138248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:66161380 (GRCh38)
9:43141958 (GRCh37)
Canonical SPDI:: NC_000009.12:66161379:T:G
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.66161380T>G, NC_000009.11:g.43141958T>G

Select item 14900894628.

rs1490089462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:66162005 (GRCh38)
9:43142583 (GRCh37)
Canonical SPDI:: NC_000009.12:66162004:C:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.66162005C>T, NC_000009.11:g.43142583C>T

Select item 14900132259.

rs1490013225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:66164911 (GRCh38)
9:43145489 (GRCh37)
Canonical SPDI:: NC_000009.12:66164910:A:G,NC_000009.12:66164910:A:T
Gene:: LOC642929 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000061/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.66164911A>G, NC_000009.12:g.66164911A>T, NC_000009.11:g.43145489A>G, NC_000009.11:g.43145489A>T, NR_027472.2:n.493T>C, NR_027472.2:n.493T>A

Select item 148966835710.

rs1489668357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:66166638 (GRCh38)
9:43147216 (GRCh37)
Canonical SPDI:: NC_000009.12:66166637:T:A,NC_000009.12:66166637:T:C
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.66166638T>A, NC_000009.12:g.66166638T>C, NC_000009.11:g.43147216T>A, NC_000009.11:g.43147216T>C

Select item 148949553011.

rs1489495530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:66163286 (GRCh38)
9:43143864 (GRCh37)
Canonical SPDI:: NC_000009.12:66163285:A:G
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.66163286A>G, NC_000009.11:g.43143864A>G

Select item 148925720612.

rs1489257206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:66166099 (GRCh38)
9:43146677 (GRCh37)
Canonical SPDI:: NC_000009.12:66166098:A:C
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.66166099A>C, NC_000009.11:g.43146677A>C

Select item 148859255213.

rs1488592552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:66161268 (GRCh38)
9:43141846 (GRCh37)
Canonical SPDI:: NC_000009.12:66161267:T:A,NC_000009.12:66161267:T:C
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01294/211 (ALFA)
C=0.00753/22 (KOREAN)
C=0.0097/274 (TOMMO)
C=0.02347/43 (Korea1K)
HGVS:: NC_000009.12:g.66161268T>A, NC_000009.12:g.66161268T>C, NC_000009.11:g.43141846T>A, NC_000009.11:g.43141846T>C

Select item 148817862214.

rs1488178622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:66160721 (GRCh38)
9:43141299 (GRCh37)
Canonical SPDI:: NC_000009.12:66160720:C:A
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.66160721C>A, NC_000009.11:g.43141299C>A

Select item 148807346115.

rs1488073461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:66163535 (GRCh38)
9:43144113 (GRCh37)
Canonical SPDI:: NC_000009.12:66163534:C:A
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000009.12:g.66163535C>A, NC_000009.11:g.43144113C>A

Select item 148793987316.

rs1487939873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:66162388 (GRCh38)
9:43142966 (GRCh37)
Canonical SPDI:: NC_000009.12:66162387:C:A,NC_000009.12:66162387:C:G,NC_000009.12:66162387:C:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.66162388C>A, NC_000009.12:g.66162388C>G, NC_000009.12:g.66162388C>T, NC_000009.11:g.43142966C>A, NC_000009.11:g.43142966C>G, NC_000009.11:g.43142966C>T

Select item 148775783617.

rs1487757836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:66163509 (GRCh38)
9:43144087 (GRCh37)
Canonical SPDI:: NC_000009.12:66163508:T:C
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.66163509T>C, NC_000009.11:g.43144087T>C

Select item 148762275618.

rs1487622756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:66165755 (GRCh38)
9:43146333 (GRCh37)
Canonical SPDI:: NC_000009.12:66165754:G:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.66165755G>T, NC_000009.11:g.43146333G>T

Select item 148757212419.

rs1487572124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:66166491 (GRCh38)
9:43147069 (GRCh37)
Canonical SPDI:: NC_000009.12:66166490:C:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.66166491C>T, NC_000009.11:g.43147069C>T

Select item 148749967120.

rs1487499671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:66166848 (GRCh38)
9:43147426 (GRCh37)
Canonical SPDI:: NC_000009.12:66166847:G:A,NC_000009.12:66166847:G:T
Gene:: LOC642929 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.66166848G>A, NC_000009.12:g.66166848G>T, NC_000009.11:g.43147426G>A, NC_000009.11:g.43147426G>T

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