SNP Links for Gene (Select 6749) - SNP

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Select item 14911171171.

rs1491117117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA,GAA [Show Flanks]
Chromosome:: 11:57337351 (GRCh38)
11:57104826 (GRCh37)
Canonical SPDI:: NC_000011.10:57337351:AA:AACAA,NC_000011.10:57337351:AA:AAGAA
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.57337353_57337354insCAA, NC_000011.10:g.57337353_57337354insGAA, NC_000011.9:g.57104827_57104828insCAA, NC_000011.9:g.57104827_57104828insGAA

Select item 14904359512.

rs1490435951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57331514 (GRCh38)
11:57098988 (GRCh37)
Canonical SPDI:: NC_000011.10:57331513:A:G
Gene:: SSRP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57331514A>G, NC_000011.9:g.57098988A>G

Select item 14894925153.

rs1489492515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57328965 (GRCh38)
11:57096439 (GRCh37)
Canonical SPDI:: NC_000011.10:57328964:C:T
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.57328965C>T, NC_000011.9:g.57096439C>T

Select item 14894419374.

rs1489441937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:57329987 (GRCh38)
11:57097461 (GRCh37)
Canonical SPDI:: NC_000011.10:57329986:C:A,NC_000011.10:57329986:C:G,NC_000011.10:57329986:C:T
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57329987C>A, NC_000011.10:g.57329987C>G, NC_000011.10:g.57329987C>T, NC_000011.9:g.57097461C>A, NC_000011.9:g.57097461C>G, NC_000011.9:g.57097461C>T

Select item 14894078315.

rs1489407831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57332290 (GRCh38)
11:57099764 (GRCh37)
Canonical SPDI:: NC_000011.10:57332289:A:G
Gene:: SSRP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57332290A>G, NC_000011.9:g.57099764A>G

Select item 14891880866.

rs1489188086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57326217 (GRCh38)
11:57093691 (GRCh37)
Canonical SPDI:: NC_000011.10:57326216:G:A
Gene:: SSRP1 (Varview), TNKS1BP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57326217G>A, NC_000011.9:g.57093691G>A, NM_003146.3:c.*190C>T, NM_003146.2:c.*190C>T, XM_017018180.2:c.*190C>T, XM_017018180.1:c.*190C>T, XM_047427498.1:c.*190C>T

Select item 14889676017.

rs1488967601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:57335360 (GRCh38)
11:57102834 (GRCh37)
Canonical SPDI:: NC_000011.10:57335359:C:G
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57335360C>G, NC_000011.9:g.57102834C>G, XM_017018180.2:c.260G>C, XM_017018180.1:c.164G>C, XM_047427499.1:c.260G>C, XP_016873669.2:p.Gly87Ala, XP_047283455.1:p.Gly87Ala

Select item 14888278988.

rs1488827898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57333977 (GRCh38)
11:57101451 (GRCh37)
Canonical SPDI:: NC_000011.10:57333976:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57333977G>A, NC_000011.9:g.57101451G>A

Select item 14887886559.

rs1488788655 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:57329305 (GRCh38)
11:57096780 (GRCh37)
Canonical SPDI:: NC_000011.10:57329305:A:AA
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57329306dup, NC_000011.9:g.57096780dup

Select item 148874644510.

rs1488746445 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:57331471 (GRCh38)
11:57098945 (GRCh37)
Canonical SPDI:: NC_000011.10:57331470:G:
Gene:: SSRP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000219/58 (TOPMED)
-=0.000221/31 (GnomAD)
HGVS:: NC_000011.10:g.57331471del, NC_000011.9:g.57098945del

Select item 148871980811.

rs1488719808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57334496 (GRCh38)
11:57101970 (GRCh37)
Canonical SPDI:: NC_000011.10:57334495:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57334496G>A, NC_000011.9:g.57101970G>A, NM_003146.3:c.207C>T, NM_003146.2:c.207C>T, XM_017018180.2:c.705C>T, XM_017018180.1:c.609C>T, XM_047427498.1:c.207C>T, XM_047427499.1:c.705C>T

Select item 148849644712.

rs1488496447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:57335125 (GRCh38)
11:57102599 (GRCh37)
Canonical SPDI:: NC_000011.10:57335124:G:A,NC_000011.10:57335124:G:T
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00021/4 (TOMMO)
HGVS:: NC_000011.10:g.57335125G>A, NC_000011.10:g.57335125G>T, NC_000011.9:g.57102599G>A, NC_000011.9:g.57102599G>T, NM_003146.3:c.-4C>T, NM_003146.3:c.-4C>A, NM_003146.2:c.-4C>T, NM_003146.2:c.-4C>A, XM_017018180.2:c.495C>T, XM_017018180.2:c.495C>A, XM_017018180.1:c.399C>T, XM_017018180.1:c.399C>A, XM_047427498.1:c.-4C>T, XM_047427498.1:c.-4C>A, XM_047427499.1:c.495C>T, XM_047427499.1:c.495C>A

Select item 148798390013.

rs1487983900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:57336322 (GRCh38)
11:57103796 (GRCh37)
Canonical SPDI:: NC_000011.10:57336321:T:G
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57336322T>G, NC_000011.9:g.57103796T>G, XM_011545069.3:c.-566T>G, XM_011545069.2:c.-566T>G, XM_011545069.1:c.-566T>G

Select item 148791895814.

rs1487918958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57337750 (GRCh38)
11:57105224 (GRCh37)
Canonical SPDI:: NC_000011.10:57337749:G:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57337750G>A, NC_000011.9:g.57105224G>A

Select item 148791065615.

rs1487910656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:57337229 (GRCh38)
11:57104703 (GRCh37)
Canonical SPDI:: NC_000011.10:57337228:T:A
Gene:: P2RX3 (Varview), SSRP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.01951/57 (KOREAN)
HGVS:: NC_000011.10:g.57337229T>A, NC_000011.9:g.57104703T>A

Select item 148780776616.

rs1487807766 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGCCCC>-,AAGCCCCAAGCCCC [Show Flanks]
Chromosome:: 11:57330624 (GRCh38)
11:57098098 (GRCh37)
Canonical SPDI:: NC_000011.10:57330614:CCAAGCCCCAAGCCCC:CCAAGCCCC,NC_000011.10:57330614:CCAAGCCCCAAGCCCC:CCAAGCCCCAAGCCCCAAGCCCC
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAAGCCCCAAGCCCCAAGCCCC=0./0 (ALFA)
CCAAGCC=0.000004/1 (TOPMED)
CCAAGCC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57330617AAGCCCC[1], NC_000011.10:g.57330617AAGCCCC[3], NC_000011.9:g.57098091AAGCCCC[1], NC_000011.9:g.57098091AAGCCCC[3], XM_047427499.1:c.1915_1921del, XM_047427499.1:c.1915_1921dup, XP_047283455.1:p.Gly639fs, XP_047283455.1:p.Asp641fs

Select item 148770590817.

rs1487705908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57327084 (GRCh38)
11:57094558 (GRCh37)
Canonical SPDI:: NC_000011.10:57327083:G:A
Gene:: SSRP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.57327084G>A, NC_000011.9:g.57094558G>A

Select item 148768572618.

rs1487685726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57333733 (GRCh38)
11:57101207 (GRCh37)
Canonical SPDI:: NC_000011.10:57333732:C:T
Gene:: SSRP1 (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_000011.10:g.57333733C>T, NC_000011.9:g.57101207C>T

Select item 148752297319.

rs1487522973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57329904 (GRCh38)
11:57097378 (GRCh37)
Canonical SPDI:: NC_000011.10:57329903:A:G
Gene:: SSRP1 (Varview), LOC124902831 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57329904A>G, NC_000011.9:g.57097378A>G