SNP Links for Gene (Select 23283) - SNP

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Select item 14913694961.

rs1491369496 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:51697104 (GRCh38)
10:53456864 (GRCh37)
Canonical SPDI:: NC_000010.11:51697102:ATA:A
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.51697104_51697105del, NC_000010.10:g.53456864_53456865del, NG_029982.1:g.710954_710955del, NM_015235.3:c.*595_*596del, NM_015235.2:c.*595_*596del

Select item 14912895822.

rs1491289582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:51697103 (GRCh38)
10:53456864 (GRCh37)
Canonical SPDI:: NC_000010.11:51697103:T:TT
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.51697104dup, NC_000010.10:g.53456864dup, NG_029982.1:g.710954dup, NM_015235.3:c.*595dup, NM_015235.2:c.*595dup

Select item 14906371503.

rs1490637150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:51701448 (GRCh38)
10:53461208 (GRCh37)
Canonical SPDI:: NC_000010.11:51701447:G:A
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.51701448G>A, NC_000010.10:g.53461208G>A, NG_029982.1:g.715298G>A

Select item 14903114554.

rs1490311455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:51700495 (GRCh38)
10:53460255 (GRCh37)
Canonical SPDI:: NC_000010.11:51700494:A:G
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.51700495A>G, NC_000010.10:g.53460255A>G, NG_029982.1:g.714345A>G, NG_079035.1:g.167A>G

Select item 14898211885.

rs1489821188 has merged into rs1224489608 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 10:51701023 (GRCh38)
10:53460783 (GRCh37)
Canonical SPDI:: NC_000010.11:51701022:AAAAAAA:AAAAAA,NC_000010.11:51701022:AAAAAAA:AAAAAAAA
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.51701029del, NC_000010.11:g.51701029dup, NC_000010.10:g.53460789del, NC_000010.10:g.53460789dup, NG_029982.1:g.714879del, NG_029982.1:g.714879dup

Select item 14890950386.

rs1489095038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:51695519 (GRCh38)
10:53455279 (GRCh37)
Canonical SPDI:: NC_000010.11:51695518:A:C
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.51695519A>C, NC_000010.10:g.53455279A>C, NG_029982.1:g.709369A>C, NM_015235.3:c.*2180T>G, NM_015235.2:c.*2180T>G

Select item 14884717827.

rs1488471782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:51698243 (GRCh38)
10:53458003 (GRCh37)
Canonical SPDI:: NC_000010.11:51698242:C:T
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51698243C>T, NC_000010.10:g.53458003C>T, NG_029982.1:g.712093C>T, NM_015235.3:c.1307G>A, NM_015235.2:c.1307G>A, NP_056050.1:p.Arg436Lys

Select item 14881051858.

rs1488105185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:51700208 (GRCh38)
10:53459968 (GRCh37)
Canonical SPDI:: NC_000010.11:51700207:C:A,NC_000010.11:51700207:C:T
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.51700208C>A, NC_000010.11:g.51700208C>T, NC_000010.10:g.53459968C>A, NC_000010.10:g.53459968C>T, NG_029982.1:g.714058C>A, NG_029982.1:g.714058C>T

Select item 14876000709.

rs1487600070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:51698948 (GRCh38)
10:53458708 (GRCh37)
Canonical SPDI:: NC_000010.11:51698947:A:T
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_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_000010.11:g.51698948A>T, NC_000010.10:g.53458708A>T, NG_029982.1:g.712798A>T, NM_015235.3:c.602T>A, NM_015235.2:c.602T>A, NP_056050.1:p.Ile201Asn

Select item 148746568310.

rs1487465683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:51695051 (GRCh38)
10:53454811 (GRCh37)
Canonical SPDI:: NC_000010.11:51695050:T:C
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.51695051T>C, NC_000010.10:g.53454811T>C, NG_029982.1:g.708901T>C

Select item 148709465011.

rs1487094650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:51701374 (GRCh38)
10:53461134 (GRCh37)
Canonical SPDI:: NC_000010.11:51701373:C:A
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.51701374C>A, NC_000010.10:g.53461134C>A, NG_029982.1:g.715224C>A

Select item 148700567512.

rs1487005675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:51698148 (GRCh38)
10:53457908 (GRCh37)
Canonical SPDI:: NC_000010.11:51698147:T:C
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51698148T>C, NC_000010.10:g.53457908T>C, NG_029982.1:g.711998T>C, NM_015235.3:c.1402A>G, NM_015235.2:c.1402A>G, NP_056050.1:p.Arg468Gly

Select item 148684694413.

rs1486846944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:51698383 (GRCh38)
10:53458143 (GRCh37)
Canonical SPDI:: NC_000010.11:51698382:T:G
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.51698383T>G, NC_000010.10:g.53458143T>G, NG_029982.1:g.712233T>G, NM_015235.3:c.1167A>C, NM_015235.2:c.1167A>C, NP_056050.1:p.Arg389Ser

Select item 148641827114.

rs1486418271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:51699967 (GRCh38)
10:53459727 (GRCh37)
Canonical SPDI:: NC_000010.11:51699966:A:G
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.51699967A>G, NC_000010.10:g.53459727A>G, NG_029982.1:g.713817A>G

Select item 148640396515.

rs1486403965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:51697618 (GRCh38)
10:53457378 (GRCh37)
Canonical SPDI:: NC_000010.11:51697617:T:A
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.51697618T>A, NC_000010.10:g.53457378T>A, NG_029982.1:g.711468T>A, NM_015235.3:c.*81A>T, NM_015235.2:c.*81A>T

Select item 148564444316.

rs1485644443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:51699926 (GRCh38)
10:53459686 (GRCh37)
Canonical SPDI:: NC_000010.11:51699925:A:C,NC_000010.11:51699925:A:G
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.51699926A>C, NC_000010.11:g.51699926A>G, NC_000010.10:g.53459686A>C, NC_000010.10:g.53459686A>G, NG_029982.1:g.713776A>C, NG_029982.1:g.713776A>G

Select item 148531301917.

rs1485313019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:51699727 (GRCh38)
10:53459487 (GRCh37)
Canonical SPDI:: NC_000010.11:51699726:C:T
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.51699727C>T, NC_000010.10:g.53459487C>T, NG_029982.1:g.713577C>T

Select item 148520346518.

rs1485203465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:51698029 (GRCh38)
10:53457789 (GRCh37)
Canonical SPDI:: NC_000010.11:51698028:A:G
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.51698029A>G, NC_000010.10:g.53457789A>G, NG_029982.1:g.711879A>G, NM_015235.3:c.1521T>C, NM_015235.2:c.1521T>C

Select item 148446573319.

rs1484465733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:51697310 (GRCh38)
10:53457070 (GRCh37)
Canonical SPDI:: NC_000010.11:51697309:T:C
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.51697310T>C, NC_000010.10:g.53457070T>C, NG_029982.1:g.711160T>C, NM_015235.3:c.*389A>G, NM_015235.2:c.*389A>G

Select item 148390969020.

rs1483909690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:51699116 (GRCh38)
10:53458876 (GRCh37)
Canonical SPDI:: NC_000010.11:51699115:T:C
Gene:: PRKG1 (Varview), CSTF2T (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.51699116T>C, NC_000010.10:g.53458876T>C, NG_029982.1:g.712966T>C, NM_015235.3:c.434A>G, NM_015235.2:c.434A>G, NP_056050.1:p.Lys145Arg