SNP Links for Gene (Select 8629) - SNP

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Select item 14911352241.

rs1491135224 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:142669163 (GRCh38)
8:143750581 (GRCh37)
Canonical SPDI:: NC_000008.11:142669162:AG:
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
-=0.000284/5 (TOMMO)
HGVS:: NC_000008.11:g.142669163_142669164del, NW_003871066.2:g.39296_39297del, NG_011722.3:g.3856_3857del, NG_012215.2:g.5820_5821del, NC_000008.10:g.143750581_143750582del, XM_006716677.5:c.-1411_-1410del, XM_047422379.1:c.-1411_-1410del

Select item 14906944122.

rs1490694412 has merged into rs1289211744 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:142651883 (GRCh38)
8:143733262 (GRCh37)
Canonical SPDI:: NC_000008.11:142651882:AAAAAAAA:AAAAAAA,NC_000008.11:142651882:AAAAAAAA:AAAAAAAAA
Gene:: JRK (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.142651890del, NC_000008.11:g.142651890dup, NW_003871066.2:g.22023del, NW_003871066.2:g.22023dup, NC_000008.10:g.143733269del, NC_000008.10:g.143733269dup

Select item 14905769333.

rs1490576933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:142653415 (GRCh38)
8:143734799 (GRCh37)
Canonical SPDI:: NC_000008.11:142653414:C:G
Gene:: JRK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.142653415C>G, NW_003871066.2:g.23548C>G, NC_000008.10:g.143734799C>G

Select item 14905628264.

rs1490562826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:142666134 (GRCh38)
8:143747553 (GRCh37)
Canonical SPDI:: NC_000008.11:142666133:C:G,NC_000008.11:142666133:C:T
Gene:: JRK (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.142666134C>G, NC_000008.11:g.142666134C>T, NW_003871066.2:g.36267C>G, NW_003871066.2:g.36267C>T, NG_011722.3:g.827C>G, NG_011722.3:g.827C>T, NG_012215.2:g.8850G>C, NG_012215.2:g.8850G>A, NM_003724.4:c.-76G>C, NM_003724.4:c.-76G>A, NM_003724.3:c.-76G>C, NM_003724.3:c.-76G>A, NM_001077527.3:c.-76G>C, NM_001077527.3:c.-76G>A, NM_001077527.2:c.-76G>C, NM_001077527.2:c.-76G>A, NM_001279352.2:c.-76G>C, NM_001279352.2:c.-76G>A, NM_001279352.1:c.-76G>C, NM_001279352.1:c.-76G>A, NC_000008.10:g.143747553C>G, NC_000008.10:g.143747553C>T, XM_006716677.5:c.-76G>C, XM_006716677.5:c.-76G>A, XM_006716677.4:c.-76G>C, XM_006716677.4:c.-76G>A, XM_006716677.3:c.-76G>C, XM_006716677.3:c.-76G>A, XM_006716677.2:c.-76G>C, XM_006716677.2:c.-76G>A, XM_006716677.1:c.-76G>C, XM_006716677.1:c.-76G>A, XM_006716678.5:c.-76G>C, XM_006716678.5:c.-76G>A, XM_006716678.4:c.-76G>C, XM_006716678.4:c.-76G>A, XM_006716678.3:c.-76G>C, XM_006716678.3:c.-76G>A, XM_006716678.2:c.-76G>C, XM_006716678.2:c.-76G>A, XM_006716678.1:c.-76G>C, XM_006716678.1:c.-76G>A, XM_011517355.3:c.-76G>C, XM_011517355.3:c.-76G>A, XM_011517355.2:c.-76G>C, XM_011517355.2:c.-76G>A, XM_011517355.1:c.-76G>C, XM_011517355.1:c.-76G>A, XM_047422376.1:c.-76G>C, XM_047422376.1:c.-76G>A, XM_047422379.1:c.-76G>C, XM_047422379.1:c.-76G>A, XM_047422378.1:c.-76G>C, XM_047422378.1:c.-76G>A, XM_047422377.1:c.-76G>C, XM_047422377.1:c.-76G>A

Select item 14905295825.

rs1490529582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:142652303 (GRCh38)
8:143733682 (GRCh37)
Canonical SPDI:: NC_000008.11:142652302:T:C
Gene:: JRK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142652303T>C, NW_003871066.2:g.22436T>C, NC_000008.10:g.143733682T>C

Select item 14903586956.

rs1490358695 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:142670964 (GRCh38)
8:143752382 (GRCh37)
Canonical SPDI:: NC_000008.11:142670963:CCC:CC
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142670966del, NW_003871066.2:g.41099del, NG_011722.3:g.5659del, NG_012215.2:g.4020del, NC_000008.10:g.143752384del

Select item 14902054167.

rs1490205416 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:142651540 (GRCh38)
8:143732924 (GRCh37)
Canonical SPDI:: NC_000008.11:142651538:TCT:T
Gene:: JRK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.142651540_142651541del, NW_003871066.2:g.21673_21674del, NC_000008.10:g.143732924_143732925del, XM_011517355.3:c.*305_*306del, XM_011517355.2:c.*305_*306del, XM_011517355.1:c.*305_*306del

Select item 14900585908.

rs1490058590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:142669828 (GRCh38)
8:143751246 (GRCh37)
Canonical SPDI:: NC_000008.11:142669827:G:A
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000057/15 (TOPMED)
A=0.000248/4 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.142669828G>A, NW_003871066.2:g.39961G>A, NG_011722.3:g.4521G>A, NG_012215.2:g.5156C>T, NC_000008.10:g.143751246G>A

Select item 14900334739.

rs1490033473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:142670190 (GRCh38)
8:143751608 (GRCh37)
Canonical SPDI:: NC_000008.11:142670189:C:A,NC_000008.11:142670189:C:G,NC_000008.11:142670189:C:T
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.142670190C>A, NC_000008.11:g.142670190C>G, NC_000008.11:g.142670190C>T, NW_003871066.2:g.40323C>A, NW_003871066.2:g.40323C>G, NW_003871066.2:g.40323C>T, NG_011722.3:g.4883C>A, NG_011722.3:g.4883C>G, NG_011722.3:g.4883C>T, NG_012215.2:g.4794G>T, NG_012215.2:g.4794G>C, NG_012215.2:g.4794G>A, NC_000008.10:g.143751608C>A, NC_000008.10:g.143751608C>G, NC_000008.10:g.143751608C>T

Select item 148986789410.

rs1489867894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:142670498 (GRCh38)
8:143751916 (GRCh37)
Canonical SPDI:: NC_000008.11:142670497:G:A
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142670498G>A, NW_003871066.2:g.40631G>A, NG_011722.3:g.5191G>A, NR_033343.2:n.202G>A, NR_033343.1:n.191G>A, NG_012215.2:g.4486C>T, NC_000008.10:g.143751916G>A

Select item 148982981611.

rs1489829816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:142659089 (GRCh38)
8:143740501 (GRCh37)
Canonical SPDI:: NC_000008.11:142659088:T:C
Gene:: JRK (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.142659089T>C, NW_003871066.2:g.29222T>C, NG_012215.2:g.15895A>G, NM_003724.4:c.*5263A>G, NM_003724.3:c.*5263A>G, NC_000008.10:g.143740501T>C, XM_006716677.5:c.*5263A>G, XM_006716677.4:c.*5263A>G, XM_006716677.3:c.*5263A>G, XM_006716677.2:c.*5263A>G, XM_006716677.1:c.*5263A>G, XM_006716678.5:c.*5263A>G, XM_006716678.4:c.*5263A>G, XM_006716678.3:c.*5263A>G, XM_006716678.2:c.*5263A>G, XM_006716678.1:c.*5263A>G, XM_047422376.1:c.*5263A>G

Select item 148968040912.

rs1489680409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142658624 (GRCh38)
8:143740036 (GRCh37)
Canonical SPDI:: NC_000008.11:142658623:C:T
Gene:: JRK (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.142658624C>T, NW_003871066.2:g.28757C>T, NG_012215.2:g.16360G>A, NM_003724.4:c.*5728G>A, NM_003724.3:c.*5728G>A, NM_001077527.3:c.*231G>A, NM_001077527.2:c.*231G>A, NC_000008.10:g.143740036C>T, XM_006716677.5:c.*5728G>A, XM_006716677.4:c.*5728G>A, XM_006716677.3:c.*5728G>A, XM_006716677.2:c.*5728G>A, XM_006716677.1:c.*5728G>A, XM_006716678.5:c.*5728G>A, XM_006716678.4:c.*5728G>A, XM_006716678.3:c.*5728G>A, XM_006716678.2:c.*5728G>A, XM_006716678.1:c.*5728G>A, XM_047422376.1:c.*5728G>A, XM_047422377.1:c.*231G>A

Select item 148964528013.

rs1489645280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCC [Show Flanks]
Chromosome:: 8:142669818 (GRCh38)
8:143751237 (GRCh37)
Canonical SPDI:: NC_000008.11:142669818:GCCC:GCCCGCCC
Gene:: PSCA (Varview), JRK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCGCCC=0./0 (ALFA)
GCCC=0.000007/1 (GnomAD)
GCCC=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.142669819_142669822dup, NW_003871066.2:g.39952_39955dup, NG_011722.3:g.4512_4515dup, NG_012215.2:g.5162_5165dup, NC_000008.10:g.143751237_143751240dup

Select item 148958919214.

rs1489589192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142667478 (GRCh38)
8:143748896 (GRCh37)
Canonical SPDI:: NC_000008.11:142667477:C:T
Gene:: JRK (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.142667478C>T, NW_003871066.2:g.37611C>T, NG_011722.3:g.2171C>T, NG_012215.2:g.7506G>A, NC_000008.10:g.143748896C>T, XM_006716678.5:c.-896G>A, XM_006716678.4:c.-896G>A, XM_006716678.3:c.-896G>A, XM_006716678.2:c.-896G>A, XM_047422378.1:c.-896G>A

Select item 148958783715.

rs1489587837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:142657719 (GRCh38)
8:143739133 (GRCh37)
Canonical SPDI:: NC_000008.11:142657718:T:C,NC_000008.11:142657718:T:G
Gene:: JRK (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.142657719T>C, NC_000008.11:g.142657719T>G, NW_003871066.2:g.27852T>C, NW_003871066.2:g.27852T>G, NG_012215.2:g.17265A>G, NG_012215.2:g.17265A>C, NM_003724.4:c.*6633A>G, NM_003724.4:c.*6633A>C, NM_003724.3:c.*6633A>G, NM_003724.3:c.*6633A>C, NM_001077527.3:c.*1136A>G, NM_001077527.3:c.*1136A>C, NM_001077527.2:c.*1136A>G, NM_001077527.2:c.*1136A>C, NM_001279352.2:c.*395A>G, NM_001279352.2:c.*395A>C, NM_001279352.1:c.*395A>G, NM_001279352.1:c.*395A>C, NC_000008.10:g.143739133T>C, NC_000008.10:g.143739133T>G, XM_006716677.5:c.*6633A>G, XM_006716677.5:c.*6633A>C, XM_006716677.4:c.*6633A>G, XM_006716677.4:c.*6633A>C, XM_006716677.3:c.*6633A>G, XM_006716677.3:c.*6633A>C, XM_006716677.2:c.*6633A>G, XM_006716677.2:c.*6633A>C, XM_006716678.5:c.*6633A>G, XM_006716678.5:c.*6633A>C, XM_006716678.4:c.*6633A>G, XM_006716678.4:c.*6633A>C, XM_006716678.3:c.*6633A>G, XM_006716678.3:c.*6633A>C, XM_006716678.2:c.*6633A>G, XM_006716678.2:c.*6633A>C, XM_047422376.1:c.*6633A>G, XM_047422376.1:c.*6633A>C, XM_047422379.1:c.*395A>G, XM_047422379.1:c.*395A>C, XM_047422378.1:c.*395A>G, XM_047422378.1:c.*395A>C, XM_047422377.1:c.*1136A>G, XM_047422377.1:c.*1136A>C

Select item 148952395316.

rs1489523953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142668022 (GRCh38)
8:143749440 (GRCh37)
Canonical SPDI:: NC_000008.11:142668021:C:T
Gene:: JRK (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.142668022C>T, NW_003871066.2:g.38155C>T, NG_011722.3:g.2715C>T, NG_012215.2:g.6962G>A, NC_000008.10:g.143749440C>T, XM_006716678.5:c.-1440G>A, XM_006716678.4:c.-1440G>A, XM_006716678.3:c.-1440G>A, XM_006716678.2:c.-1440G>A, XM_047422378.1:c.-1440G>A

Select item 148945467317.

rs1489454673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:142655005 (GRCh38)
8:143736394 (GRCh37)
Canonical SPDI:: NC_000008.11:142655004:C:T
Gene:: JRK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.142655005C>T, NW_003871066.2:g.25138C>T, NC_000008.10:g.143736394C>T

Select item 148940892618.

rs1489408926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:142667376 (GRCh38)
8:143748794 (GRCh37)
Canonical SPDI:: NC_000008.11:142667375:C:A
Gene:: JRK (Varview)
Functional Consequence:: 5_prime_UTR_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)
HGVS:: NC_000008.11:g.142667376C>A, NW_003871066.2:g.37509C>A, NG_011722.3:g.2069C>A, NG_012215.2:g.7608G>T, NC_000008.10:g.143748794C>A, XM_006716678.5:c.-794G>T, XM_006716678.4:c.-794G>T, XM_006716678.3:c.-794G>T, XM_006716678.2:c.-794G>T, XM_047422378.1:c.-794G>T

Select item 148936737819.

rs1489367378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:142666849 (GRCh38)
8:143748268 (GRCh37)
Canonical SPDI:: NC_000008.11:142666848:A:G
Gene:: JRK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.142666849A>G, NW_003871066.2:g.36982A>G, NG_011722.3:g.1542A>G, NG_012215.2:g.8135T>C, NC_000008.10:g.143748268A>G

Select item 148932203620.

rs1489322036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:142653849 (GRCh38)
8:143735233 (GRCh37)
Canonical SPDI:: NC_000008.11:142653848:G:A
Gene:: JRK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.142653849G>A, NW_003871066.2:g.23982G>A, NC_000008.10:g.143735233G>A

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