SNP Links for Gene (Select 55062) - SNP

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Select item 14913994931.

rs1491399493 has merged into rs35370218 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 17:68435219 (GRCh38)
17:66431360 (GRCh37)
Canonical SPDI:: NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:68435206:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
A=0.3057/1531 (1000Genomes)
HGVS:: NC_000017.11:g.68435219_68435222del, NC_000017.11:g.68435220_68435222del, NC_000017.11:g.68435221_68435222del, NC_000017.11:g.68435222del, NC_000017.11:g.68435222dup, NC_000017.11:g.68435221_68435222dup, NC_000017.11:g.68435220_68435222dup, NC_000017.11:g.68435218_68435222dup, NC_000017.10:g.66431360_66431363del, NC_000017.10:g.66431361_66431363del, NC_000017.10:g.66431362_66431363del, NC_000017.10:g.66431363del, NC_000017.10:g.66431363dup, NC_000017.10:g.66431362_66431363dup, NC_000017.10:g.66431361_66431363dup, NC_000017.10:g.66431359_66431363dup, NG_007093.3:g.26597_26600del, NG_007093.3:g.26598_26600del, NG_007093.3:g.26599_26600del, NG_007093.3:g.26600del, NG_007093.3:g.26600dup, NG_007093.3:g.26599_26600dup, NG_007093.3:g.26598_26600dup, NG_007093.3:g.26596_26600dup, NG_032814.2:g.181131_181134del, NG_032814.2:g.181132_181134del, NG_032814.2:g.181133_181134del, NG_032814.2:g.181134del, NG_032814.2:g.181134dup, NG_032814.2:g.181133_181134dup, NG_032814.2:g.181132_181134dup, NG_032814.2:g.181130_181134dup

Select item 14913890422.

rs1491389042 has merged into rs199649033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:68437962 (GRCh38)
17:66434103 (GRCh37)
Canonical SPDI:: NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68437948:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAA=0.1833/918 (1000Genomes)
HGVS:: NC_000017.11:g.68437962_68437973del, NC_000017.11:g.68437963_68437973del, NC_000017.11:g.68437964_68437973del, NC_000017.11:g.68437965_68437973del, NC_000017.11:g.68437966_68437973del, NC_000017.11:g.68437967_68437973del, NC_000017.11:g.68437968_68437973del, NC_000017.11:g.68437969_68437973del, NC_000017.11:g.68437970_68437973del, NC_000017.11:g.68437971_68437973del, NC_000017.11:g.68437972_68437973del, NC_000017.11:g.68437973del, NC_000017.11:g.68437973dup, NC_000017.11:g.68437972_68437973dup, NC_000017.11:g.68437971_68437973dup, NC_000017.11:g.68437970_68437973dup, NC_000017.11:g.68437969_68437973dup, NC_000017.11:g.68437968_68437973dup, NC_000017.11:g.68437967_68437973dup, NC_000017.11:g.68437966_68437973dup, NC_000017.11:g.68437965_68437973dup, NC_000017.11:g.68437964_68437973dup, NC_000017.11:g.68437963_68437973dup, NC_000017.11:g.68437962_68437973dup, NC_000017.11:g.68437961_68437973dup, NC_000017.11:g.68437960_68437973dup, NC_000017.11:g.68437959_68437973dup, NC_000017.11:g.68437958_68437973dup, NC_000017.11:g.68437957_68437973dup, NC_000017.11:g.68437956_68437973dup, NC_000017.11:g.68437955_68437973dup, NC_000017.11:g.68437954_68437973dup, NC_000017.11:g.68437953_68437973dup, NC_000017.11:g.68437952_68437973dup, NC_000017.11:g.68437973_68437974insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.66434103_66434114del, NC_000017.10:g.66434104_66434114del, NC_000017.10:g.66434105_66434114del, NC_000017.10:g.66434106_66434114del, NC_000017.10:g.66434107_66434114del, NC_000017.10:g.66434108_66434114del, NC_000017.10:g.66434109_66434114del, NC_000017.10:g.66434110_66434114del, NC_000017.10:g.66434111_66434114del, NC_000017.10:g.66434112_66434114del, NC_000017.10:g.66434113_66434114del, NC_000017.10:g.66434114del, NC_000017.10:g.66434114dup, NC_000017.10:g.66434113_66434114dup, NC_000017.10:g.66434112_66434114dup, NC_000017.10:g.66434111_66434114dup, NC_000017.10:g.66434110_66434114dup, NC_000017.10:g.66434109_66434114dup, NC_000017.10:g.66434108_66434114dup, NC_000017.10:g.66434107_66434114dup, NC_000017.10:g.66434106_66434114dup, NC_000017.10:g.66434105_66434114dup, NC_000017.10:g.66434104_66434114dup, NC_000017.10:g.66434103_66434114dup, NC_000017.10:g.66434102_66434114dup, NC_000017.10:g.66434101_66434114dup, NC_000017.10:g.66434100_66434114dup, NC_000017.10:g.66434099_66434114dup, NC_000017.10:g.66434098_66434114dup, NC_000017.10:g.66434097_66434114dup, NC_000017.10:g.66434096_66434114dup, NC_000017.10:g.66434095_66434114dup, NC_000017.10:g.66434094_66434114dup, NC_000017.10:g.66434093_66434114dup, NC_000017.10:g.66434114_66434115insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007093.3:g.29340_29351del, NG_007093.3:g.29341_29351del, NG_007093.3:g.29342_29351del, NG_007093.3:g.29343_29351del, NG_007093.3:g.29344_29351del, NG_007093.3:g.29345_29351del, NG_007093.3:g.29346_29351del, NG_007093.3:g.29347_29351del, NG_007093.3:g.29348_29351del, NG_007093.3:g.29349_29351del, NG_007093.3:g.29350_29351del, NG_007093.3:g.29351del, NG_007093.3:g.29351dup, NG_007093.3:g.29350_29351dup, NG_007093.3:g.29349_29351dup, NG_007093.3:g.29348_29351dup, NG_007093.3:g.29347_29351dup, NG_007093.3:g.29346_29351dup, NG_007093.3:g.29345_29351dup, NG_007093.3:g.29344_29351dup, NG_007093.3:g.29343_29351dup, NG_007093.3:g.29342_29351dup, NG_007093.3:g.29341_29351dup, NG_007093.3:g.29340_29351dup, NG_007093.3:g.29339_29351dup, NG_007093.3:g.29338_29351dup, NG_007093.3:g.29337_29351dup, NG_007093.3:g.29336_29351dup, NG_007093.3:g.29335_29351dup, NG_007093.3:g.29334_29351dup, NG_007093.3:g.29333_29351dup, NG_007093.3:g.29332_29351dup, NG_007093.3:g.29331_29351dup, NG_007093.3:g.29330_29351dup, NG_007093.3:g.29351_29352insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032814.2:g.183874_183885del, NG_032814.2:g.183875_183885del, NG_032814.2:g.183876_183885del, NG_032814.2:g.183877_183885del, NG_032814.2:g.183878_183885del, NG_032814.2:g.183879_183885del, NG_032814.2:g.183880_183885del, NG_032814.2:g.183881_183885del, NG_032814.2:g.183882_183885del, NG_032814.2:g.183883_183885del, NG_032814.2:g.183884_183885del, NG_032814.2:g.183885del, NG_032814.2:g.183885dup, NG_032814.2:g.183884_183885dup, NG_032814.2:g.183883_183885dup, NG_032814.2:g.183882_183885dup, NG_032814.2:g.183881_183885dup, NG_032814.2:g.183880_183885dup, NG_032814.2:g.183879_183885dup, NG_032814.2:g.183878_183885dup, NG_032814.2:g.183877_183885dup, NG_032814.2:g.183876_183885dup, NG_032814.2:g.183875_183885dup, NG_032814.2:g.183874_183885dup, NG_032814.2:g.183873_183885dup, NG_032814.2:g.183872_183885dup, NG_032814.2:g.183871_183885dup, NG_032814.2:g.183870_183885dup, NG_032814.2:g.183869_183885dup, NG_032814.2:g.183868_183885dup, NG_032814.2:g.183867_183885dup, NG_032814.2:g.183866_183885dup, NG_032814.2:g.183865_183885dup, NG_032814.2:g.183864_183885dup, NG_032814.2:g.183885_183886insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913858723.

rs1491385872 has merged into rs1555801305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 17:68437016 (GRCh38)
17:66433157 (GRCh37)
Canonical SPDI:: NC_000017.11:68437005:ATATATATATAT:ATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATATATATATAT,NC_000017.11:68437005:ATATATATATAT:ATATATATATATATATATATATAT
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
ATATATATAT=0.034247/20 (NorthernSweden)
HGVS:: NC_000017.11:g.68437006AT[5], NC_000017.11:g.68437006AT[7], NC_000017.11:g.68437006AT[8], NC_000017.11:g.68437006AT[9], NC_000017.11:g.68437006AT[10], NC_000017.11:g.68437006AT[11], NC_000017.11:g.68437006AT[12], NC_000017.10:g.66433147AT[5], NC_000017.10:g.66433147AT[7], NC_000017.10:g.66433147AT[8], NC_000017.10:g.66433147AT[9], NC_000017.10:g.66433147AT[10], NC_000017.10:g.66433147AT[11], NC_000017.10:g.66433147AT[12], NG_007093.3:g.28384AT[5], NG_007093.3:g.28384AT[7], NG_007093.3:g.28384AT[8], NG_007093.3:g.28384AT[9], NG_007093.3:g.28384AT[10], NG_007093.3:g.28384AT[11], NG_007093.3:g.28384AT[12], NG_032814.2:g.182918AT[5], NG_032814.2:g.182918AT[7], NG_032814.2:g.182918AT[8], NG_032814.2:g.182918AT[9], NG_032814.2:g.182918AT[10], NG_032814.2:g.182918AT[11], NG_032814.2:g.182918AT[12]

Select item 14913763164.

rs1491376316 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:68437948 (GRCh38)
17:66434089 (GRCh37)
Canonical SPDI:: NC_000017.11:68437947:TA:
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000017.11:g.68437948_68437949del, NC_000017.10:g.66434089_66434090del, NG_007093.3:g.29326_29327del, NG_032814.2:g.183860_183861del

Select item 14913379095.

rs1491337909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGT [Show Flanks]
Chromosome:: 17:68437006 (GRCh38)
17:66433148 (GRCh37)
Canonical SPDI:: NC_000017.11:68437006:T:TGTGTGTGT
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGT=0./0 (ALFA)
TGTGTGTG=0.00005/3 (GnomAD)
HGVS:: NC_000017.11:g.68437008GT[4], NC_000017.10:g.66433149GT[4], NG_007093.3:g.28386GT[4], NG_032814.2:g.182920GT[4]

Select item 14912327346.

rs1491232734 has merged into rs35004898 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:68455374 (GRCh38)
17:66451515 (GRCh37)
Canonical SPDI:: NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68455361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKAR1A (Varview), WIPI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1322/662 (1000Genomes)
HGVS:: NC_000017.11:g.68455374_68455380del, NC_000017.11:g.68455376_68455380del, NC_000017.11:g.68455378_68455380del, NC_000017.11:g.68455379_68455380del, NC_000017.11:g.68455380del, NC_000017.11:g.68455380dup, NC_000017.11:g.68455379_68455380dup, NC_000017.11:g.68455378_68455380dup, NC_000017.11:g.68455374_68455380dup, NC_000017.10:g.66451515_66451521del, NC_000017.10:g.66451517_66451521del, NC_000017.10:g.66451519_66451521del, NC_000017.10:g.66451520_66451521del, NC_000017.10:g.66451521del, NC_000017.10:g.66451521dup, NC_000017.10:g.66451520_66451521dup, NC_000017.10:g.66451519_66451521dup, NC_000017.10:g.66451515_66451521dup, NG_007093.3:g.46752_46758del, NG_007093.3:g.46754_46758del, NG_007093.3:g.46756_46758del, NG_007093.3:g.46757_46758del, NG_007093.3:g.46758del, NG_007093.3:g.46758dup, NG_007093.3:g.46757_46758dup, NG_007093.3:g.46756_46758dup, NG_007093.3:g.46752_46758dup

Select item 14909530347.

rs1490953034 [Homo sapiens]

Variant type:: SNV:
Alleles:: AAAAAAAAAAATATATA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14907503898.

rs1490750389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68449143 (GRCh38)
17:66445284 (GRCh37)
Canonical SPDI:: NC_000017.11:68449142:C:T
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.68449143C>T, NC_000017.10:g.66445284C>T, NG_007093.3:g.40521C>T, NG_032814.2:g.195055C>T, XM_017024808.2:c.-890G>A, XM_017024808.1:c.-890G>A

Select item 14906919329.

rs1490691932 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG,GTTG [Show Flanks]
Chromosome:: 17:68433762 (GRCh38)
17:66429904 (GRCh37)
Canonical SPDI:: NC_000017.11:68433762::G,NC_000017.11:68433762::GG,NC_000017.11:68433762::GTTG
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.01352/166 (TOMMO)
HGVS:: NC_000017.11:g.68433762_68433763insG, NC_000017.11:g.68433762_68433763insGG, NC_000017.11:g.68433762_68433763insGTTG, NC_000017.10:g.66429903_66429904insG, NC_000017.10:g.66429903_66429904insGG, NC_000017.10:g.66429903_66429904insGTTG, NG_007093.3:g.25140_25141insG, NG_007093.3:g.25140_25141insGG, NG_007093.3:g.25140_25141insGTTG, NG_032814.2:g.179674_179675insG, NG_032814.2:g.179674_179675insGG, NG_032814.2:g.179674_179675insGTTG

Select item 149055127910.

rs1490551279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68454138 (GRCh38)
17:66450279 (GRCh37)
Canonical SPDI:: NC_000017.11:68454137:T:C
Gene:: PRKAR1A (Varview), WIPI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68454138T>C, NC_000017.10:g.66450279T>C, NG_007093.3:g.45516T>C

Select item 149046765711.

rs1490467657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68440206 (GRCh38)
17:66436347 (GRCh37)
Canonical SPDI:: NC_000017.11:68440205:C:T
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_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_000017.11:g.68440206C>T, NC_000017.10:g.66436347C>T, NG_007093.3:g.31584C>T, NG_032814.2:g.186118C>T

Select item 149046128412.

rs1490461284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68437923 (GRCh38)
17:66434064 (GRCh37)
Canonical SPDI:: NC_000017.11:68437922:G:A
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000017.11:g.68437923G>A, NC_000017.10:g.66434064G>A, NG_007093.3:g.29301G>A, NG_032814.2:g.183835G>A

Select item 149044180113.

rs1490441801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68456643 (GRCh38)
17:66452784 (GRCh37)
Canonical SPDI:: NC_000017.11:68456642:C:T
Gene:: PRKAR1A (Varview), WIPI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68456643C>T, NC_000017.10:g.66452784C>T, NG_007093.3:g.48021C>T

Select item 149041960614.

rs1490419606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68425256 (GRCh38)
17:66421397 (GRCh37)
Canonical SPDI:: NC_000017.11:68425255:T:C
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview), MIR635 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68425256T>C, NC_000017.10:g.66421397T>C, NG_007093.3:g.16634T>C, NG_032814.2:g.171168T>C

Select item 149040174915.

rs1490401749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:68439065 (GRCh38)
17:66435206 (GRCh37)
Canonical SPDI:: NC_000017.11:68439064:G:C
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68439065G>C, NC_000017.10:g.66435206G>C, NG_007093.3:g.30443G>C, NG_032814.2:g.184977G>C

Select item 149031591316.

rs1490315913 has merged into rs556777098 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:68433772 (GRCh38)
17:66429913 (GRCh37)
Canonical SPDI:: NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68433760:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.68433772_68433798del, NC_000017.11:g.68433773_68433798del, NC_000017.11:g.68433774_68433798del, NC_000017.11:g.68433775_68433798del, NC_000017.11:g.68433776_68433798del, NC_000017.11:g.68433777_68433798del, NC_000017.11:g.68433778_68433798del, NC_000017.11:g.68433779_68433798del, NC_000017.11:g.68433780_68433798del, NC_000017.11:g.68433781_68433798del, NC_000017.11:g.68433782_68433798del, NC_000017.11:g.68433783_68433798del, NC_000017.11:g.68433784_68433798del, NC_000017.11:g.68433785_68433798del, NC_000017.11:g.68433786_68433798del, NC_000017.11:g.68433787_68433798del, NC_000017.11:g.68433788_68433798del, NC_000017.11:g.68433789_68433798del, NC_000017.11:g.68433790_68433798del, NC_000017.11:g.68433791_68433798del, NC_000017.11:g.68433792_68433798del, NC_000017.11:g.68433793_68433798del, NC_000017.11:g.68433794_68433798del, NC_000017.11:g.68433795_68433798del, NC_000017.11:g.68433796_68433798del, NC_000017.11:g.68433797_68433798del, NC_000017.11:g.68433798del, NC_000017.11:g.68433798dup, NC_000017.11:g.68433797_68433798dup, NC_000017.11:g.68433796_68433798dup, NC_000017.11:g.68433795_68433798dup, NC_000017.11:g.68433794_68433798dup, NC_000017.11:g.68433793_68433798dup, NC_000017.11:g.68433792_68433798dup, NC_000017.11:g.68433791_68433798dup, NC_000017.11:g.68433790_68433798dup, NC_000017.11:g.68433789_68433798dup, NC_000017.11:g.68433788_68433798dup, NC_000017.11:g.68433787_68433798dup, NC_000017.11:g.68433786_68433798dup, NC_000017.11:g.68433785_68433798dup, NC_000017.11:g.68433784_68433798dup, NC_000017.11:g.68433783_68433798dup, NC_000017.11:g.68433782_68433798dup, NC_000017.11:g.68433781_68433798dup, NC_000017.11:g.68433780_68433798dup, NC_000017.11:g.68433778_68433798dup, NC_000017.11:g.68433776_68433798dup, NC_000017.11:g.68433775_68433798dup, NC_000017.11:g.68433773_68433798dup, NC_000017.11:g.68433768_68433798dup, NC_000017.11:g.68433767_68433798dup, NC_000017.10:g.66429913_66429939del, NC_000017.10:g.66429914_66429939del, NC_000017.10:g.66429915_66429939del, NC_000017.10:g.66429916_66429939del, NC_000017.10:g.66429917_66429939del, NC_000017.10:g.66429918_66429939del, NC_000017.10:g.66429919_66429939del, NC_000017.10:g.66429920_66429939del, NC_000017.10:g.66429921_66429939del, NC_000017.10:g.66429922_66429939del, NC_000017.10:g.66429923_66429939del, NC_000017.10:g.66429924_66429939del, NC_000017.10:g.66429925_66429939del, NC_000017.10:g.66429926_66429939del, NC_000017.10:g.66429927_66429939del, NC_000017.10:g.66429928_66429939del, NC_000017.10:g.66429929_66429939del, NC_000017.10:g.66429930_66429939del, NC_000017.10:g.66429931_66429939del, NC_000017.10:g.66429932_66429939del, NC_000017.10:g.66429933_66429939del, NC_000017.10:g.66429934_66429939del, NC_000017.10:g.66429935_66429939del, NC_000017.10:g.66429936_66429939del, NC_000017.10:g.66429937_66429939del, NC_000017.10:g.66429938_66429939del, NC_000017.10:g.66429939del, NC_000017.10:g.66429939dup, NC_000017.10:g.66429938_66429939dup, NC_000017.10:g.66429937_66429939dup, NC_000017.10:g.66429936_66429939dup, NC_000017.10:g.66429935_66429939dup, NC_000017.10:g.66429934_66429939dup, NC_000017.10:g.66429933_66429939dup, NC_000017.10:g.66429932_66429939dup, NC_000017.10:g.66429931_66429939dup, NC_000017.10:g.66429930_66429939dup, NC_000017.10:g.66429929_66429939dup, NC_000017.10:g.66429928_66429939dup, NC_000017.10:g.66429927_66429939dup, NC_000017.10:g.66429926_66429939dup, NC_000017.10:g.66429925_66429939dup, NC_000017.10:g.66429924_66429939dup, NC_000017.10:g.66429923_66429939dup, NC_000017.10:g.66429922_66429939dup, NC_000017.10:g.66429921_66429939dup, NC_000017.10:g.66429919_66429939dup, NC_000017.10:g.66429917_66429939dup, NC_000017.10:g.66429916_66429939dup, NC_000017.10:g.66429914_66429939dup, NC_000017.10:g.66429909_66429939dup, NC_000017.10:g.66429908_66429939dup, NG_007093.3:g.25150_25176del, NG_007093.3:g.25151_25176del, NG_007093.3:g.25152_25176del, NG_007093.3:g.25153_25176del, NG_007093.3:g.25154_25176del, NG_007093.3:g.25155_25176del, NG_007093.3:g.25156_25176del, NG_007093.3:g.25157_25176del, NG_007093.3:g.25158_25176del, NG_007093.3:g.25159_25176del, NG_007093.3:g.25160_25176del, NG_007093.3:g.25161_25176del, NG_007093.3:g.25162_25176del, NG_007093.3:g.25163_25176del, NG_007093.3:g.25164_25176del, NG_007093.3:g.25165_25176del, NG_007093.3:g.25166_25176del, NG_007093.3:g.25167_25176del, NG_007093.3:g.25168_25176del, NG_007093.3:g.25169_25176del, NG_007093.3:g.25170_25176del, NG_007093.3:g.25171_25176del, NG_007093.3:g.25172_25176del, NG_007093.3:g.25173_25176del, NG_007093.3:g.25174_25176del, NG_007093.3:g.25175_25176del, NG_007093.3:g.25176del, NG_007093.3:g.25176dup, NG_007093.3:g.25175_25176dup, NG_007093.3:g.25174_25176dup, NG_007093.3:g.25173_25176dup, NG_007093.3:g.25172_25176dup, NG_007093.3:g.25171_25176dup, NG_007093.3:g.25170_25176dup, NG_007093.3:g.25169_25176dup, NG_007093.3:g.25168_25176dup, NG_007093.3:g.25167_25176dup, NG_007093.3:g.25166_25176dup, NG_007093.3:g.25165_25176dup, NG_007093.3:g.25164_25176dup, NG_007093.3:g.25163_25176dup, NG_007093.3:g.25162_25176dup, NG_007093.3:g.25161_25176dup, NG_007093.3:g.25160_25176dup, NG_007093.3:g.25159_25176dup, NG_007093.3:g.25158_25176dup, NG_007093.3:g.25156_25176dup, NG_007093.3:g.25154_25176dup, NG_007093.3:g.25153_25176dup, NG_007093.3:g.25151_25176dup, NG_007093.3:g.25146_25176dup, NG_007093.3:g.25145_25176dup, NG_032814.2:g.179684_179710del, NG_032814.2:g.179685_179710del, NG_032814.2:g.179686_179710del, NG_032814.2:g.179687_179710del, NG_032814.2:g.179688_179710del, NG_032814.2:g.179689_179710del, NG_032814.2:g.179690_179710del, NG_032814.2:g.179691_179710del, NG_032814.2:g.179692_179710del, NG_032814.2:g.179693_179710del, NG_032814.2:g.179694_179710del, NG_032814.2:g.179695_179710del, NG_032814.2:g.179696_179710del, NG_032814.2:g.179697_179710del, NG_032814.2:g.179698_179710del, NG_032814.2:g.179699_179710del, NG_032814.2:g.179700_179710del, NG_032814.2:g.179701_179710del, NG_032814.2:g.179702_179710del, NG_032814.2:g.179703_179710del, NG_032814.2:g.179704_179710del, NG_032814.2:g.179705_179710del, NG_032814.2:g.179706_179710del, NG_032814.2:g.179707_179710del, NG_032814.2:g.179708_179710del, NG_032814.2:g.179709_179710del, NG_032814.2:g.179710del, NG_032814.2:g.179710dup, NG_032814.2:g.179709_179710dup, NG_032814.2:g.179708_179710dup, NG_032814.2:g.179707_179710dup, NG_032814.2:g.179706_179710dup, NG_032814.2:g.179705_179710dup, NG_032814.2:g.179704_179710dup, NG_032814.2:g.179703_179710dup, NG_032814.2:g.179702_179710dup, NG_032814.2:g.179701_179710dup, NG_032814.2:g.179700_179710dup, NG_032814.2:g.179699_179710dup, NG_032814.2:g.179698_179710dup, NG_032814.2:g.179697_179710dup, NG_032814.2:g.179696_179710dup, NG_032814.2:g.179695_179710dup, NG_032814.2:g.179694_179710dup, NG_032814.2:g.179693_179710dup, NG_032814.2:g.179692_179710dup, NG_032814.2:g.179690_179710dup, NG_032814.2:g.179688_179710dup, NG_032814.2:g.179687_179710dup, NG_032814.2:g.179685_179710dup, NG_032814.2:g.179680_179710dup, NG_032814.2:g.179679_179710dup

Select item 149026712417.

rs1490267124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68440163 (GRCh38)
17:66436304 (GRCh37)
Canonical SPDI:: NC_000017.11:68440162:C:T
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.68440163C>T, NC_000017.10:g.66436304C>T, NG_007093.3:g.31541C>T, NG_032814.2:g.186075C>T

Select item 149017362018.

rs1490173620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68442408 (GRCh38)
17:66438549 (GRCh37)
Canonical SPDI:: NC_000017.11:68442407:T:C
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_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_000017.11:g.68442408T>C, NC_000017.10:g.66438549T>C, NG_007093.3:g.33786T>C, NG_032814.2:g.188320T>C

Select item 149015841619.

rs1490158416 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:68457553 (GRCh38)
17:66453694 (GRCh37)
Canonical SPDI:: NC_000017.11:68457552:TA:
Gene:: PRKAR1A (Varview), WIPI1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00061/14 (TOMMO)
HGVS:: NC_000017.11:g.68457553_68457554del, NC_000017.10:g.66453694_66453695del, NG_007093.3:g.48931_48932del

Select item 149014351420.

rs1490143514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:68441275 (GRCh38)
17:66437416 (GRCh37)
Canonical SPDI:: NC_000017.11:68441274:A:G
Gene:: PRKAR1A (Varview), ARSG (Varview), WIPI1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68441275A>G, NC_000017.10:g.66437416A>G, NG_007093.3:g.32653A>G, NG_032814.2:g.187187A>G, NM_001352905.2:c.*618A>G, NM_001352905.1:c.*618A>G, NM_001352909.2:c.*492A>G, NM_001352909.1:c.*492A>G, XM_047435634.1:c.*618A>G, XM_047435646.1:c.*492A>G, XM_047435645.1:c.*492A>G, XM_047435637.1:c.*492A>G, XM_047435642.1:c.*473A>G

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