SNP Links for Gene (Select 100130889) - SNP

Select item 14915517621.

rs1491551762 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:31187186 (GRCh38)
6:31154963 (GRCh37)
Canonical SPDI:: NC_000006.12:31187185:CA:
Gene:: PSORS1C3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00135/16 (ALFA)
HGVS:: NC_000006.12:g.31187186_31187187del, NC_000006.11:g.31154963_31154964del, NT_113891.3:g.2669638_2669639del, NT_113891.2:g.2669744_2669745del, NT_167248.2:g.2445245dup, NT_167248.2:g.2445231del, NT_167245.2:g.2446526_2446527del, NT_167245.1:g.2452111_2452112del, NT_167249.2:g.2490613_2490614del, NT_167249.1:g.2489911_2489912del, NT_167248.1:g.2450841dup, NT_167248.1:g.2450827del

Select item 14915268762.

rs1491526876 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:31179872 (GRCh38)
6:31147650 (GRCh37)
Canonical SPDI:: NC_000006.12:31179872::A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/3 (GnomAD)
HGVS:: NC_000006.12:g.31179872_31179873insA, NC_000006.11:g.31147649_31147650insA, NT_113891.3:g.2662312_2662313insA, NT_113891.2:g.2662418_2662419insA, NT_167248.2:g.2437923_2437924insA, NT_167248.1:g.2443519_2443520insA, NT_167245.2:g.2439204_2439205insA, NT_167245.1:g.2444789_2444790insA, NT_167249.2:g.2483305_2483306insA, NT_167249.1:g.2482603_2482604insA, NT_167246.2:g.2490398dup, NT_167247.2:g.2524012dup, NT_167246.1:g.2496018dup, NT_167247.1:g.2529597dup

Select item 14915104983.

rs1491510498 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:31179857 (GRCh38)
6:31147634 (GRCh37)
Canonical SPDI:: NC_000006.12:31179856:GT:
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001493/23 (ALFA)
-=0.000212/4 (TOMMO)
-=0.005/3 (NorthernSweden)
-=0.024512/3014 (GnomAD)
HGVS:: NC_000006.12:g.31179857_31179858del, NC_000006.11:g.31147634_31147635del, NT_113891.3:g.2662297A>G, NT_113891.3:g.2662297AT[4], NT_113891.2:g.2662403A>G, NT_113891.2:g.2662403AT[4], NT_167248.2:g.2437908_2437909del, NT_167248.1:g.2443504_2443505del, NT_167245.2:g.2439189A>G, NT_167245.2:g.2439189AT[5], NT_167245.1:g.2444774A>G, NT_167245.1:g.2444774AT[5], NT_167249.2:g.2483290_2483291del, NT_167249.1:g.2482588_2482589del, NT_167246.2:g.2490386_2490387del, NT_167246.1:g.2496006_2496007del, NT_167247.2:g.2524000_2524001del, NT_167247.1:g.2529585_2529586del

Select item 14914721214.

rs1491472121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 6:31177048 (GRCh38)
6:31144826 (GRCh37)
Canonical SPDI:: NC_000006.12:31177048:TT:TTATT
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
HGVS:: NC_000006.12:g.31177050_31177051insATT, NC_000006.11:g.31144827_31144828insATT, NT_113891.3:g.2659492_2659493insATT, NT_113891.2:g.2659598_2659599insATT, NT_167248.2:g.2435101_2435102insATT, NT_167248.1:g.2440697_2440698insATT, NT_167245.2:g.2436384_2436385insATT, NT_167245.1:g.2441969_2441970insATT, NT_167249.2:g.2480483_2480484insATT, NT_167249.1:g.2479781_2479782insATT, NT_167246.2:g.2487571_2487572insATT, NT_167246.1:g.2493191_2493192insATT, NT_167247.2:g.2521185_2521186insATT, NT_167247.1:g.2526770_2526771insATT

Select item 14913984715.

rs1491398471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAGA,TATATATAGA [Show Flanks]
Chromosome:: 6:31181866 (GRCh38)
6:31149644 (GRCh37)
Canonical SPDI:: NC_000006.12:31181866:A:ATATAGA,NC_000006.12:31181866:A:ATATATATAGA
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAGA=0./0 (ALFA)
ATATATATAG=0.000004/1 (TOPMED)
ATATAG=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.31181867AT[2]AGA[1], NC_000006.12:g.31181867AT[4]AGA[1], NC_000006.11:g.31149644AT[2]AGA[1], NC_000006.11:g.31149644AT[4]AGA[1], NT_113891.3:g.2664319AT[2]AGA[1], NT_113891.3:g.2664319AT[4]AGA[1], NT_113891.2:g.2664425AT[2]AGA[1], NT_113891.2:g.2664425AT[4]AGA[1], NT_167248.2:g.2439911AT[2]AGA[1], NT_167248.2:g.2439911AT[4]AGA[1], NT_167248.1:g.2445507AT[2]AGA[1], NT_167248.1:g.2445507AT[4]AGA[1], NT_167245.2:g.2441207AT[2]AGA[1], NT_167245.2:g.2441207AT[4]AGA[1], NT_167245.1:g.2446792AT[2]AGA[1], NT_167245.1:g.2446792AT[4]AGA[1], NT_167249.2:g.2485293AT[2]AGA[1], NT_167249.2:g.2485293AT[4]AGA[1], NT_167249.1:g.2484591AT[2]AGA[1], NT_167249.1:g.2484591AT[4]AGA[1], NT_167246.2:g.2492389AT[2]AGA[1], NT_167246.2:g.2492389AT[4]AGA[1], NT_167246.1:g.2498009AT[2]AGA[1], NT_167246.1:g.2498009AT[4]AGA[1], NT_167247.2:g.2526003AT[2]AGA[1], NT_167247.2:g.2526003AT[4]AGA[1], NT_167247.1:g.2531588AT[2]AGA[1], NT_167247.1:g.2531588AT[4]AGA[1]

Select item 14913746536.

rs1491374653 has merged into rs9281241 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:31177060 (GRCh38)
6:31144837 (GRCh37)
Canonical SPDI:: NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:31177047:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3387/1696 (1000Genomes)
HGVS:: NC_000006.12:g.31177060_31177063del, NC_000006.12:g.31177061_31177063del, NC_000006.12:g.31177062_31177063del, NC_000006.12:g.31177063del, NC_000006.12:g.31177063dup, NC_000006.12:g.31177062_31177063dup, NC_000006.12:g.31177061_31177063dup, NC_000006.12:g.31177060_31177063dup, NC_000006.12:g.31177059_31177063dup, NC_000006.12:g.31177058_31177063dup, NC_000006.12:g.31177057_31177063dup, NC_000006.12:g.31177056_31177063dup, NC_000006.12:g.31177055_31177063dup, NC_000006.12:g.31177054_31177063dup, NC_000006.12:g.31177053_31177063dup, NC_000006.12:g.31177051_31177063dup, NC_000006.12:g.31177063_31177064insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.31177063_31177064insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.31144837_31144840del, NC_000006.11:g.31144838_31144840del, NC_000006.11:g.31144839_31144840del, NC_000006.11:g.31144840del, NC_000006.11:g.31144840dup, NC_000006.11:g.31144839_31144840dup, NC_000006.11:g.31144838_31144840dup, NC_000006.11:g.31144837_31144840dup, NC_000006.11:g.31144836_31144840dup, NC_000006.11:g.31144835_31144840dup, NC_000006.11:g.31144834_31144840dup, NC_000006.11:g.31144833_31144840dup, NC_000006.11:g.31144832_31144840dup, NC_000006.11:g.31144831_31144840dup, NC_000006.11:g.31144830_31144840dup, NC_000006.11:g.31144828_31144840dup, NC_000006.11:g.31144840_31144841insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.31144840_31144841insTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2659502_2659505del, NT_113891.3:g.2659503_2659505del, NT_113891.3:g.2659504_2659505del, NT_113891.3:g.2659505del, NT_113891.3:g.2659505dup, NT_113891.3:g.2659504_2659505dup, NT_113891.3:g.2659503_2659505dup, NT_113891.3:g.2659502_2659505dup, NT_113891.3:g.2659501_2659505dup, NT_113891.3:g.2659500_2659505dup, NT_113891.3:g.2659499_2659505dup, NT_113891.3:g.2659498_2659505dup, NT_113891.3:g.2659497_2659505dup, NT_113891.3:g.2659496_2659505dup, NT_113891.3:g.2659495_2659505dup, NT_113891.3:g.2659493_2659505dup, NT_113891.3:g.2659505_2659506insTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2659505_2659506insTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2659608_2659611del, NT_113891.2:g.2659609_2659611del, NT_113891.2:g.2659610_2659611del, NT_113891.2:g.2659611del, NT_113891.2:g.2659611dup, NT_113891.2:g.2659610_2659611dup, NT_113891.2:g.2659609_2659611dup, NT_113891.2:g.2659608_2659611dup, NT_113891.2:g.2659607_2659611dup, NT_113891.2:g.2659606_2659611dup, NT_113891.2:g.2659605_2659611dup, NT_113891.2:g.2659604_2659611dup, NT_113891.2:g.2659603_2659611dup, NT_113891.2:g.2659602_2659611dup, NT_113891.2:g.2659601_2659611dup, NT_113891.2:g.2659599_2659611dup, NT_113891.2:g.2659611_2659612insTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2659611_2659612insTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2435111_2435114del, NT_167248.2:g.2435112_2435114del, NT_167248.2:g.2435113_2435114del, NT_167248.2:g.2435114del, NT_167248.2:g.2435114dup, NT_167248.2:g.2435113_2435114dup, NT_167248.2:g.2435112_2435114dup, NT_167248.2:g.2435111_2435114dup, NT_167248.2:g.2435110_2435114dup, NT_167248.2:g.2435109_2435114dup, NT_167248.2:g.2435108_2435114dup, NT_167248.2:g.2435107_2435114dup, NT_167248.2:g.2435106_2435114dup, NT_167248.2:g.2435105_2435114dup, NT_167248.2:g.2435104_2435114dup, NT_167248.2:g.2435102_2435114dup, NT_167248.2:g.2435114_2435115insTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2435114_2435115insTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2440707_2440710del, NT_167248.1:g.2440708_2440710del, NT_167248.1:g.2440709_2440710del, NT_167248.1:g.2440710del, NT_167248.1:g.2440710dup, NT_167248.1:g.2440709_2440710dup, NT_167248.1:g.2440708_2440710dup, NT_167248.1:g.2440707_2440710dup, NT_167248.1:g.2440706_2440710dup, NT_167248.1:g.2440705_2440710dup, NT_167248.1:g.2440704_2440710dup, NT_167248.1:g.2440703_2440710dup, NT_167248.1:g.2440702_2440710dup, NT_167248.1:g.2440701_2440710dup, NT_167248.1:g.2440700_2440710dup, NT_167248.1:g.2440698_2440710dup, NT_167248.1:g.2440710_2440711insTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2440710_2440711insTTTTTTTTTTTTTTTTTTTTT, NT_167245.2:g.2436394_2436397del, NT_167245.2:g.2436395_2436397del, NT_167245.2:g.2436396_2436397del, NT_167245.2:g.2436397del, NT_167245.2:g.2436397dup, NT_167245.2:g.2436396_2436397dup, NT_167245.2:g.2436395_2436397dup, NT_167245.2:g.2436394_2436397dup, NT_167245.2:g.2436393_2436397dup, NT_167245.2:g.2436392_2436397dup, NT_167245.2:g.2436391_2436397dup, NT_167245.2:g.2436390_2436397dup, NT_167245.2:g.2436389_2436397dup, NT_167245.2:g.2436388_2436397dup, NT_167245.2:g.2436387_2436397dup, NT_167245.2:g.2436385_2436397dup, NT_167245.2:g.2436397_2436398insTTTTTTTTTTTTTTTTTTT, NT_167245.2:g.2436397_2436398insTTTTTTTTTTTTTTTTTTTTT, NT_167245.1:g.2441979_2441982del, NT_167245.1:g.2441980_2441982del, NT_167245.1:g.2441981_2441982del, NT_167245.1:g.2441982del, NT_167245.1:g.2441982dup, NT_167245.1:g.2441981_2441982dup, NT_167245.1:g.2441980_2441982dup, NT_167245.1:g.2441979_2441982dup, NT_167245.1:g.2441978_2441982dup, NT_167245.1:g.2441977_2441982dup, NT_167245.1:g.2441976_2441982dup, NT_167245.1:g.2441975_2441982dup, NT_167245.1:g.2441974_2441982dup, NT_167245.1:g.2441973_2441982dup, NT_167245.1:g.2441972_2441982dup, NT_167245.1:g.2441970_2441982dup, NT_167245.1:g.2441982_2441983insTTTTTTTTTTTTTTTTTTT, NT_167245.1:g.2441982_2441983insTTTTTTTTTTTTTTTTTTTTT, NT_167249.2:g.2480493_2480496del, NT_167249.2:g.2480494_2480496del, NT_167249.2:g.2480495_2480496del, NT_167249.2:g.2480496del, NT_167249.2:g.2480496dup, NT_167249.2:g.2480495_2480496dup, NT_167249.2:g.2480494_2480496dup, NT_167249.2:g.2480493_2480496dup, NT_167249.2:g.2480492_2480496dup, NT_167249.2:g.2480491_2480496dup, NT_167249.2:g.2480490_2480496dup, NT_167249.2:g.2480489_2480496dup, NT_167249.2:g.2480488_2480496dup, NT_167249.2:g.2480487_2480496dup, NT_167249.2:g.2480486_2480496dup, NT_167249.2:g.2480484_2480496dup, NT_167249.2:g.2480496_2480497insTTTTTTTTTTTTTTTTTTT, NT_167249.2:g.2480496_2480497insTTTTTTTTTTTTTTTTTTTTT, NT_167249.1:g.2479791_2479794del, NT_167249.1:g.2479792_2479794del, NT_167249.1:g.2479793_2479794del, NT_167249.1:g.2479794del, NT_167249.1:g.2479794dup, NT_167249.1:g.2479793_2479794dup, NT_167249.1:g.2479792_2479794dup, NT_167249.1:g.2479791_2479794dup, NT_167249.1:g.2479790_2479794dup, NT_167249.1:g.2479789_2479794dup, NT_167249.1:g.2479788_2479794dup, NT_167249.1:g.2479787_2479794dup, NT_167249.1:g.2479786_2479794dup, NT_167249.1:g.2479785_2479794dup, NT_167249.1:g.2479784_2479794dup, NT_167249.1:g.2479782_2479794dup, NT_167249.1:g.2479794_2479795insTTTTTTTTTTTTTTTTTTT, NT_167249.1:g.2479794_2479795insTTTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2487581_2487584del, NT_167246.2:g.2487582_2487584del, NT_167246.2:g.2487583_2487584del, NT_167246.2:g.2487584del, NT_167246.2:g.2487584dup, NT_167246.2:g.2487583_2487584dup, NT_167246.2:g.2487582_2487584dup, NT_167246.2:g.2487581_2487584dup, NT_167246.2:g.2487580_2487584dup, NT_167246.2:g.2487579_2487584dup, NT_167246.2:g.2487578_2487584dup, NT_167246.2:g.2487577_2487584dup, NT_167246.2:g.2487576_2487584dup, NT_167246.2:g.2487575_2487584dup, NT_167246.2:g.2487574_2487584dup, NT_167246.2:g.2487572_2487584dup, NT_167246.2:g.2487566_2487584dup, NT_167246.2:g.2487584_2487585insTTTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2493201_2493204del, NT_167246.1:g.2493202_2493204del, NT_167246.1:g.2493203_2493204del, NT_167246.1:g.2493204del, NT_167246.1:g.2493204dup, NT_167246.1:g.2493203_2493204dup, NT_167246.1:g.2493202_2493204dup, NT_167246.1:g.2493201_2493204dup, NT_167246.1:g.2493200_2493204dup, NT_167246.1:g.2493199_2493204dup, NT_167246.1:g.2493198_2493204dup, NT_167246.1:g.2493197_2493204dup, NT_167246.1:g.2493196_2493204dup, NT_167246.1:g.2493195_2493204dup, NT_167246.1:g.2493194_2493204dup, NT_167246.1:g.2493192_2493204dup, NT_167246.1:g.2493186_2493204dup, NT_167246.1:g.2493204_2493205insTTTTTTTTTTTTTTTTTTTTT, NT_167247.2:g.2521195_2521198del, NT_167247.2:g.2521196_2521198del, NT_167247.2:g.2521197_2521198del, NT_167247.2:g.2521198del, NT_167247.2:g.2521198dup, NT_167247.2:g.2521197_2521198dup, NT_167247.2:g.2521196_2521198dup, NT_167247.2:g.2521195_2521198dup, NT_167247.2:g.2521194_2521198dup, NT_167247.2:g.2521193_2521198dup, NT_167247.2:g.2521192_2521198dup, NT_167247.2:g.2521191_2521198dup, NT_167247.2:g.2521190_2521198dup, NT_167247.2:g.2521189_2521198dup, NT_167247.2:g.2521188_2521198dup, NT_167247.2:g.2521186_2521198dup, NT_167247.2:g.2521180_2521198dup, NT_167247.2:g.2521198_2521199insTTTTTTTTTTTTTTTTTTTTT, NT_167247.1:g.2526780_2526783del, NT_167247.1:g.2526781_2526783del, NT_167247.1:g.2526782_2526783del, NT_167247.1:g.2526783del, NT_167247.1:g.2526783dup, NT_167247.1:g.2526782_2526783dup, NT_167247.1:g.2526781_2526783dup, NT_167247.1:g.2526780_2526783dup, NT_167247.1:g.2526779_2526783dup, NT_167247.1:g.2526778_2526783dup, NT_167247.1:g.2526777_2526783dup, NT_167247.1:g.2526776_2526783dup, NT_167247.1:g.2526775_2526783dup, NT_167247.1:g.2526774_2526783dup, NT_167247.1:g.2526773_2526783dup, NT_167247.1:g.2526771_2526783dup, NT_167247.1:g.2526765_2526783dup, NT_167247.1:g.2526783_2526784insTTTTTTTTTTTTTTTTTTTTT

Select item 14905068007.

rs1490506800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31178953 (GRCh38)
6:31146730 (GRCh37)
Canonical SPDI:: NC_000006.12:31178952:G:T
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.012/35 (KOREAN)
G=0.5/4 (Siberian)
HGVS:: NC_000006.12:g.31178953G>T, NC_000006.11:g.31146730G>T, NT_113891.3:g.2661395G>T, NT_113891.2:g.2661501G>T, NT_167248.2:g.2437004G>T, NT_167248.1:g.2442600G>T, NT_167245.2:g.2438287G>T, NT_167245.1:g.2443872G>T, NT_167249.2:g.2482386G>T, NT_167249.1:g.2481684G>T, NT_167246.2:g.2489482G>T, NT_167246.1:g.2495102G>T, NT_167247.2:g.2523096G>T, NT_167247.1:g.2528681G>T

Select item 14888162818.

rs1488816281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31179293 (GRCh38)
6:31147070 (GRCh37)
Canonical SPDI:: NC_000006.12:31179292:A:T
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31179293A>T, NC_000006.11:g.31147070A>T, NT_113891.3:g.2661735A>T, NT_113891.2:g.2661841A>T, NT_167248.2:g.2437344A>T, NT_167248.1:g.2442940A>T, NT_167245.2:g.2438627A>T, NT_167245.1:g.2444212A>T, NT_167249.2:g.2482726A>T, NT_167249.1:g.2482024A>T, NT_167246.2:g.2489822A>T, NT_167246.1:g.2495442A>T, NT_167247.2:g.2523436A>T, NT_167247.1:g.2529021A>T

Select item 14885406159.

rs1488540615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31174741 (GRCh38)
6:31142518 (GRCh37)
Canonical SPDI:: NC_000006.12:31174740:A:G
Gene:: PSORS1C3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000006.12:g.31174741A>G, NC_000006.11:g.31142518A>G, NT_113891.3:g.2657182A>G, NT_113891.2:g.2657288A>G, NT_167248.2:g.2432791A>G, NT_167248.1:g.2438387A>G, NT_167245.2:g.2434074A>G, NT_167245.1:g.2439659A>G, NT_167249.2:g.2478172A>G, NT_167249.1:g.2477470A>G, NT_167246.2:g.2485261A>G, NT_167246.1:g.2490881A>G, NT_167247.2:g.2518874A>G, NT_167247.1:g.2524459A>G, NR_152833.1:n.639T>C, NR_152828.1:n.639T>C, NR_152834.1:n.906T>C

Select item 148825748610.

rs1488257486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31175599 (GRCh38)
6:31143376 (GRCh37)
Canonical SPDI:: NC_000006.12:31175598:G:C
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31175599G>C, NC_000006.11:g.31143376G>C, NT_113891.3:g.2658040G>C, NT_113891.2:g.2658146G>C, NT_167248.2:g.2433649G>C, NT_167248.1:g.2439245G>C, NT_167245.2:g.2434932G>C, NT_167245.1:g.2440517G>C, NT_167249.2:g.2479031G>C, NT_167249.1:g.2478329G>C, NT_167246.2:g.2486118G>C, NT_167246.1:g.2491738G>C, NT_167247.2:g.2519732G>C, NT_167247.1:g.2525317G>C

Select item 148810410111.

rs1488104101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:31179837 (GRCh38)
6:31147615 (GRCh37)
Canonical SPDI:: NC_000006.12:31179837:TATATATAT:TATATATATAT
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0.000071/1 (ALFA)
TA=0./0 (GnomAD)
TA=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.31179839AT[5], NC_000006.11:g.31147616AT[5], NT_113891.3:g.2662279AT[5], NT_113891.2:g.2662385AT[5], NT_167248.2:g.2437890AT[5], NT_167248.1:g.2443486AT[5], NT_167245.2:g.2439171AT[5], NT_167245.1:g.2444756AT[5], NT_167249.2:g.2483272AT[5], NT_167249.1:g.2482570AT[5], NT_167246.2:g.2490368AT[5], NT_167246.1:g.2495988AT[5], NT_167247.2:g.2523982AT[5], NT_167247.1:g.2529567AT[5]

Select item 148755655712.

rs1487556557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31173417 (GRCh38)
6:31141194 (GRCh37)
Canonical SPDI:: NC_000006.12:31173416:G:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.31173417G>A, NC_000006.11:g.31141194G>A, NT_113891.3:g.2655858G>A, NT_113891.2:g.2655964G>A, NT_167248.2:g.2431467G>A, NT_167248.1:g.2437063G>A, NT_167245.2:g.2432750G>A, NT_167245.1:g.2438335G>A, NT_167249.2:g.2476848G>A, NT_167249.1:g.2476146G>A, NT_167246.2:g.2483937G>A, NT_167246.1:g.2489557G>A, NT_167247.2:g.2517550G>A, NT_167247.1:g.2523135G>A

Select item 148664486213.

rs1486644862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31176929 (GRCh38)
6:31144706 (GRCh37)
Canonical SPDI:: NC_000006.12:31176928:G:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000006.12:g.31176929G>A, NC_000006.11:g.31144706G>A, NT_113891.3:g.2659370G>A, NT_113891.2:g.2659476G>A, NT_167248.2:g.2434979G>A, NT_167248.1:g.2440575G>A, NT_167245.2:g.2436262G>A, NT_167245.1:g.2441847G>A, NT_167249.2:g.2480361G>A, NT_167249.1:g.2479659G>A, NT_167246.2:g.2487446G>A, NT_167246.1:g.2493066G>A, NT_167247.2:g.2521060G>A, NT_167247.1:g.2526645G>A

Select item 148645290914.

rs1486452909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31176877 (GRCh38)
6:31144654 (GRCh37)
Canonical SPDI:: NC_000006.12:31176876:G:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.31176877G>A, NC_000006.11:g.31144654G>A, NT_113891.3:g.2659318G>A, NT_113891.2:g.2659424G>A, NT_167248.2:g.2434927G>A, NT_167248.1:g.2440523G>A, NT_167245.2:g.2436210G>A, NT_167245.1:g.2441795G>A, NT_167249.2:g.2480309G>A, NT_167249.1:g.2479607G>A, NT_167246.2:g.2487394G>A, NT_167246.1:g.2493014G>A, NT_167247.2:g.2521008G>A, NT_167247.1:g.2526593G>A

Select item 148635387515.

rs1486353875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31179353 (GRCh38)
6:31147130 (GRCh37)
Canonical SPDI:: NC_000006.12:31179352:T:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31179353T>A, NC_000006.11:g.31147130T>A, NT_113891.3:g.2661795T>A, NT_113891.2:g.2661901T>A, NT_167248.2:g.2437404T>A, NT_167248.1:g.2443000T>A, NT_167245.2:g.2438687T>A, NT_167245.1:g.2444272T>A, NT_167249.2:g.2482786T>A, NT_167249.1:g.2482084T>A, NT_167246.2:g.2489882T>A, NT_167246.1:g.2495502T>A, NT_167247.2:g.2523496T>A, NT_167247.1:g.2529081T>A

Select item 148570561716.

rs1485705617 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148489488817.

rs1484894888 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 6:31177047 (GRCh38)
6:31144824 (GRCh37)
Canonical SPDI:: NC_000006.12:31177043:CTTCTT:CTT
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000006.12:g.31177044CTT[1], NC_000006.11:g.31144821CTT[1]

Select item 148402431418.

rs1484024314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31175311 (GRCh38)
6:31143088 (GRCh37)
Canonical SPDI:: NC_000006.12:31175310:G:C
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.31175311G>C, NC_000006.11:g.31143088G>C, NT_113891.3:g.2657752G>C, NT_113891.2:g.2657858G>C, NT_167248.2:g.2433361G>C, NT_167248.1:g.2438957G>C, NT_167245.2:g.2434644G>C, NT_167245.1:g.2440229G>C, NT_167249.2:g.2478743G>C, NT_167249.1:g.2478041G>C, NT_167246.2:g.2485830G>C, NT_167246.1:g.2491450G>C, NT_167247.2:g.2519444G>C, NT_167247.1:g.2525029G>C

Select item 148252240219.

rs1482522402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31174719 (GRCh38)
6:31142496 (GRCh37)
Canonical SPDI:: NC_000006.12:31174718:G:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.31174719G>A, NC_000006.11:g.31142496G>A, NT_113891.3:g.2657160G>A, NT_113891.2:g.2657266G>A, NT_167248.2:g.2432769G>A, NT_167248.1:g.2438365G>A, NT_167245.2:g.2434052G>A, NT_167245.1:g.2439637G>A, NT_167249.2:g.2478150G>A, NT_167249.1:g.2477448G>A, NT_167246.2:g.2485239G>A, NT_167246.1:g.2490859G>A, NT_167247.2:g.2518852G>A, NT_167247.1:g.2524437G>A, NR_152833.1:n.661C>T, NR_152828.1:n.661C>T, NR_152834.1:n.928C>T

Select item 148133799220.

rs1481337992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31174169 (GRCh38)
6:31141946 (GRCh37)
Canonical SPDI:: NC_000006.12:31174168:G:A
Gene:: PSORS1C3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31174169G>A, NC_000006.11:g.31141946G>A, NT_113891.3:g.2656610G>A, NT_113891.2:g.2656716G>A, NT_167248.2:g.2432219G>A, NT_167248.1:g.2437815G>A, NT_167245.2:g.2433502G>A, NT_167245.1:g.2439087G>A, NT_167249.2:g.2477600G>A, NT_167249.1:g.2476898G>A, NT_167246.2:g.2484689G>A, NT_167246.1:g.2490309G>A, NT_167247.2:g.2518302G>A, NT_167247.1:g.2523887G>A

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