SNP Links for Gene (Select 63976) - SNP

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Select item 14915773991.

rs1491577399 has merged into rs1553127266 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGCACACGCACGCGC,GCGCACACGCACGCGCGC,GCGCGC,GCGCGCGC [Show Flanks]
Chromosome:: 1:3114193 (GRCh38)
1:3030757 (GRCh37)
Canonical SPDI:: NC_000001.11:3114191:CGC:C,NC_000001.11:3114191:CGC:CGCGCACACGCACGCGC,NC_000001.11:3114191:CGC:CGCGCACACGCACGCGCGC,NC_000001.11:3114191:CGC:CGCGCGC,NC_000001.11:3114191:CGC:CGCGCGCGC
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCACACGCACGCGCGC=0./0 (ALFA)
CGCGCACACGCACGCG=0.000004/1 (TOPMED)
CGCG=0.000428/7 (TOMMO)
HGVS:: NC_000001.11:g.3114193_3114194del, NC_000001.11:g.3114192_3114194CG[2]CA[2]CGCACGCGC[1], NC_000001.11:g.3114192_3114194CG[2]CA[2]CGCACGCGCGC[1], NC_000001.11:g.3114193GC[3], NC_000001.11:g.3114193GC[4], NC_000001.10:g.3030757_3030758del, NC_000001.10:g.3030756_3030758CG[2]CA[2]CGCACGCGC[1], NC_000001.10:g.3030756_3030758CG[2]CA[2]CGCACGCGCGC[1], NC_000001.10:g.3030757GC[3], NC_000001.10:g.3030757GC[4], NG_029576.2:g.50016_50017del, NG_029576.2:g.50015_50017CG[2]CA[2]CGCACGCGC[1], NG_029576.2:g.50015_50017CG[2]CA[2]CGCACGCGCGC[1], NG_029576.2:g.50016GC[3], NG_029576.2:g.50016GC[4]

Select item 14915636542.

rs1491563654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 1:3409890 (GRCh38)
1:3326455 (GRCh37)
Canonical SPDI:: NC_000001.11:3409890:G:GGG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.3409891_3409892insGG, NC_000001.10:g.3326455_3326456insGG, NG_029576.2:g.345714_345715insGG

Select item 14915613453.

rs1491561345 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:3409832 (GRCh38)
1:3326396 (GRCh37)
Canonical SPDI:: NC_000001.11:3409825:TGTGTGTG:TGTGTG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTG=0.00185/22 (ALFA)
-=0.00017/8 (GnomAD)
HGVS:: NC_000001.11:g.3409826TG[3], NC_000001.10:g.3326390TG[3], NG_029576.2:g.345649TG[3]

Select item 14915488774.

rs1491548877 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:3130797 (GRCh38)
1:3047361 (GRCh37)
Canonical SPDI:: NC_000001.11:3130795:TGT:T
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.3130797_3130798del, NC_000001.10:g.3047361_3047362del, NG_029576.2:g.66620_66621del

Select item 14915382825.

rs1491538282 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:3146506 (GRCh38)
1:3063070 (GRCh37)
Canonical SPDI:: NC_000001.11:3146505:AG:
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000106/3 (TOMMO)
-=0.000134/17 (GnomAD)
HGVS:: NC_000001.11:g.3146506_3146507del, NC_000001.10:g.3063070_3063071del, NG_029576.2:g.82329_82330del

Select item 14915359996.

rs1491535999 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:3409847 (GRCh38)
1:3326411 (GRCh37)
Canonical SPDI:: NC_000001.11:3409845:GGG:G
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000148/2 (TOMMO)
-=0.000547/1 (Korea1K)
-=0.000805/103 (GnomAD)
HGVS:: NC_000001.11:g.3409847_3409848del, NC_000001.10:g.3326411_3326412del, NG_029576.2:g.345670_345671del

Select item 14915347307.

rs1491534730 has merged into rs372665094 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 1:3129276 (GRCh38)
1:3045840 (GRCh37)
Canonical SPDI:: NC_000001.11:3129266:TGTGTGTGTGTGT:TGTGTGTGT,NC_000001.11:3129266:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:3129266:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
TG=0.000036/1 (TOMMO)
-=0.009279/17 (Korea1K)
HGVS:: NC_000001.11:g.3129268GT[4], NC_000001.11:g.3129268GT[5], NC_000001.11:g.3129268GT[7], NC_000001.10:g.3045832GT[4], NC_000001.10:g.3045832GT[5], NC_000001.10:g.3045832GT[7], NG_029576.2:g.65091GT[4], NG_029576.2:g.65091GT[5], NG_029576.2:g.65091GT[7]

Select item 14915343358.

rs1491534335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:3409848 (GRCh38)
1:3326413 (GRCh37)
Canonical SPDI:: NC_000001.11:3409848:T:TAT
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.3409849_3409850insAT, NC_000001.10:g.3326413_3326414insAT, NG_029576.2:g.345672_345673insAT

Select item 14915291639.

rs1491529163 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGCGCGCGCA,TGCGCGCGCGCA,TGCGCGCGCGCGCA,TGCGTGTGCGCGCGCGCA,TGTGCGCGCGCA,TGTGCGCGCGCGCA,TGTGTGCGCGCGCA,TGTGTGCGCGCGCACA,TGTGTGCGCGCGCGCA,TGTGTGTGCGCGCGCA,TGTGTGTGCGCGCGCGCA,TGTGTGTGTGCGCGCGCA [Show Flanks]
Chromosome:: 1:3225574 (GRCh38)
1:3142139 (GRCh37)
Canonical SPDI:: NC_000001.11:3225574::TGCGCGCGCA,NC_000001.11:3225574::TGCGCGCGCGCA,NC_000001.11:3225574::TGCGCGCGCGCGCA,NC_000001.11:3225574::TGCGTGTGCGCGCGCGCA,NC_000001.11:3225574::TGTGCGCGCGCA,NC_000001.11:3225574::TGTGCGCGCGCGCA,NC_000001.11:3225574::TGTGTGCGCGCGCA,NC_000001.11:3225574::TGTGTGCGCGCGCACA,NC_000001.11:3225574::TGTGTGCGCGCGCGCA,NC_000001.11:3225574::TGTGTGTGCGCGCGCA,NC_000001.11:3225574::TGTGTGTGCGCGCGCGCA,NC_000001.11:3225574::TGTGTGTGTGCGCGCGCA
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCGCGCGCGCA=0./0 (ALFA)
TGTGTGCGCGCGCACA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.3225574_3225575insTGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGCGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGCGTGTGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGTGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGTGCGCGCGCACA, NC_000001.11:g.3225574_3225575insTGTGTGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGTGTGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGTGTGCGCGCGCGCA, NC_000001.11:g.3225574_3225575insTGTGTGTGTGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGCGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGCGTGTGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGTGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGTGCGCGCGCACA, NC_000001.10:g.3142138_3142139insTGTGTGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGTGTGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGTGTGCGCGCGCGCA, NC_000001.10:g.3142138_3142139insTGTGTGTGTGCGCGCGCA, NG_029576.2:g.161397_161398insTGCGCGCGCA, NG_029576.2:g.161397_161398insTGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGCGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGCGTGTGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGTGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGTGCGCGCGCACA, NG_029576.2:g.161397_161398insTGTGTGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGTGTGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGTGTGCGCGCGCGCA, NG_029576.2:g.161397_161398insTGTGTGTGTGCGCGCGCA

Select item 149152286910.

rs1491522869 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:3433121 (GRCh38)
1:3349685 (GRCh37)
Canonical SPDI:: NC_000001.11:3433120:GGGGG:GGGG,NC_000001.11:3433120:GGGGG:GGGGGG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000043/6 (GnomAD)
-=0.000814/14 (TOMMO)
-=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.3433125del, NC_000001.11:g.3433125dup, NC_000001.10:g.3349689del, NC_000001.10:g.3349689dup, NG_029576.2:g.368948del, NG_029576.2:g.368948dup

Select item 149152249011.

rs1491522490 has merged into rs1297795353 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTGTGTGG>-,TTGTGTGTGGTTGTGTGTGG [Show Flanks]
Chromosome:: 1:3409771 (GRCh38)
1:3326335 (GRCh37)
Canonical SPDI:: NC_000001.11:3409761:TGTGTGTGGTTGTGTGTGG:TGTGTGTGG,NC_000001.11:3409761:TGTGTGTGGTTGTGTGTGG:TGTGTGTGGTTGTGTGTGGTTGTGTGTGG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGGTTGTGTGTGGTTGTGTGTGG=0./0 (ALFA)
-=0.00005/1 (TOMMO)
HGVS:: NC_000001.11:g.3409771_3409780del, NC_000001.11:g.3409771_3409780dup, NC_000001.10:g.3326335_3326344del, NC_000001.10:g.3326335_3326344dup, NG_029576.2:g.345594_345603del, NG_029576.2:g.345594_345603dup

Select item 149151855112.

rs1491518551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGGAGAGGAGA [Show Flanks]
Chromosome:: 1:3240071 (GRCh38)
1:3156636 (GRCh37)
Canonical SPDI:: NC_000001.11:3240071:AGAGGAGAGGAGA:AGAGGAGAGGAGAAGAGGAGAGGAGA
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.3240072_3240084dup, NC_000001.10:g.3156636_3156648dup, NG_029576.2:g.175895_175907dup

Select item 149151650313.

rs1491516503 has merged into rs761637919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCACACGCGCGC [Show Flanks]
Chromosome:: 1:3114203 (GRCh38)
1:3030767 (GRCh37)
Canonical SPDI:: NC_000001.11:3114201:CGC:C,NC_000001.11:3114201:CGC:CGCGC,NC_000001.11:3114201:CGC:CGCGCGC,NC_000001.11:3114201:CGC:CGCGCGCACACGCGCGC
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGC=0.00012/2 (ALFA)
HGVS:: NC_000001.11:g.3114203_3114204del, NC_000001.11:g.3114203_3114204dup, NC_000001.11:g.3114203GC[3], NC_000001.11:g.3114202_3114204CG[3]CA[2]CG[3]C[1], NC_000001.10:g.3030767_3030768del, NC_000001.10:g.3030767_3030768dup, NC_000001.10:g.3030767GC[3], NC_000001.10:g.3030766_3030768CG[3]CA[2]CG[3]C[1], NG_029576.2:g.50026_50027del, NG_029576.2:g.50026_50027dup, NG_029576.2:g.50026GC[3], NG_029576.2:g.50025_50027CG[3]CA[2]CG[3]C[1]

Select item 149151046714.

rs1491510467 has merged into rs59791059 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:3354471 (GRCh38)
1:3271035 (GRCh37)
Canonical SPDI:: NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:3354459:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.375/3 (KOREAN)
HGVS:: NC_000001.11:g.3354471_3354479del, NC_000001.11:g.3354475_3354479del, NC_000001.11:g.3354476_3354479del, NC_000001.11:g.3354477_3354479del, NC_000001.11:g.3354478_3354479del, NC_000001.11:g.3354479del, NC_000001.11:g.3354479dup, NC_000001.11:g.3354478_3354479dup, NC_000001.11:g.3354477_3354479dup, NC_000001.11:g.3354476_3354479dup, NC_000001.11:g.3354475_3354479dup, NC_000001.11:g.3354474_3354479dup, NC_000001.11:g.3354473_3354479dup, NC_000001.10:g.3271035_3271043del, NC_000001.10:g.3271039_3271043del, NC_000001.10:g.3271040_3271043del, NC_000001.10:g.3271041_3271043del, NC_000001.10:g.3271042_3271043del, NC_000001.10:g.3271043del, NC_000001.10:g.3271043dup, NC_000001.10:g.3271042_3271043dup, NC_000001.10:g.3271041_3271043dup, NC_000001.10:g.3271040_3271043dup, NC_000001.10:g.3271039_3271043dup, NC_000001.10:g.3271038_3271043dup, NC_000001.10:g.3271037_3271043dup, NG_029576.2:g.290294_290302del, NG_029576.2:g.290298_290302del, NG_029576.2:g.290299_290302del, NG_029576.2:g.290300_290302del, NG_029576.2:g.290301_290302del, NG_029576.2:g.290302del, NG_029576.2:g.290302dup, NG_029576.2:g.290301_290302dup, NG_029576.2:g.290300_290302dup, NG_029576.2:g.290299_290302dup, NG_029576.2:g.290298_290302dup, NG_029576.2:g.290297_290302dup, NG_029576.2:g.290296_290302dup

Select item 149150366915.

rs1491503669 has merged into rs57750843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:3225165 (GRCh38)
1:3141729 (GRCh37)
Canonical SPDI:: NC_000001.11:3225159:AAAAAAAAA:AAAAA,NC_000001.11:3225159:AAAAAAAAA:AAAAAAA,NC_000001.11:3225159:AAAAAAAAA:AAAAAAAA,NC_000001.11:3225159:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:3225159:AAAAAAAAA:AAAAAAAAAAAAA
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.11808/529 (Estonian)
-=0.156667/94 (NorthernSweden)
-=0.172345/172 (GoNL)
-=0.175143/675 (ALSPAC)
-=0.179612/666 (TWINSUK)
-=0.2/8 (GENOME_DK)
-=0.314625/83278 (TOPMED)
-=0.364629/668 (Korea1K)
-=0.369609/1851 (1000Genomes)
-=0.436337/7313 (TOMMO)
HGVS:: NC_000001.11:g.3225165_3225168del, NC_000001.11:g.3225167_3225168del, NC_000001.11:g.3225168del, NC_000001.11:g.3225168dup, NC_000001.11:g.3225165_3225168dup, NC_000001.10:g.3141729_3141732del, NC_000001.10:g.3141731_3141732del, NC_000001.10:g.3141732del, NC_000001.10:g.3141732dup, NC_000001.10:g.3141729_3141732dup, NG_029576.2:g.160988_160991del, NG_029576.2:g.160990_160991del, NG_029576.2:g.160991del, NG_029576.2:g.160991dup, NG_029576.2:g.160988_160991dup

Select item 149150155316.

rs1491501553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTACGCATGG [Show Flanks]
Chromosome:: 1:3181231 (GRCh38)
1:3097796 (GRCh37)
Canonical SPDI:: NC_000001.11:3181231:GG:GGCCTTACGCATGG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GGCCTTACGCAT=0.000081/10 (GnomAD)
HGVS:: NC_000001.11:g.3181233_3181234insCCTTACGCATGG, NC_000001.10:g.3097797_3097798insCCTTACGCATGG, NG_029576.2:g.117056_117057insCCTTACGCATGG

Select item 149149865617.

rs1491498656 has merged into rs375516446 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G [Show Flanks]
Chromosome:: 1:3260713 (GRCh38)
1:3177277 (GRCh37)
Canonical SPDI:: NC_000001.11:3260711:GGGG:G,NC_000001.11:3260711:GGGG:GG
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00053/9 (TOMMO)
HGVS:: NC_000001.11:g.3260713_3260715del, NC_000001.11:g.3260714_3260715del, NC_000001.10:g.3177277_3177279del, NC_000001.10:g.3177278_3177279del, NG_029576.2:g.196536_196538del, NG_029576.2:g.196537_196538del

Select item 149149758318.

rs1491497583 has merged into rs34675402 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:3390851 (GRCh38)
1:3307415 (GRCh37)
Canonical SPDI:: NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3390834:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4259/2133 (1000Genomes)
HGVS:: NC_000001.11:g.3390851_3390853del, NC_000001.11:g.3390852_3390853del, NC_000001.11:g.3390853del, NC_000001.11:g.3390853dup, NC_000001.11:g.3390852_3390853dup, NC_000001.11:g.3390851_3390853dup, NC_000001.11:g.3390850_3390853dup, NC_000001.11:g.3390849_3390853dup, NC_000001.10:g.3307415_3307417del, NC_000001.10:g.3307416_3307417del, NC_000001.10:g.3307417del, NC_000001.10:g.3307417dup, NC_000001.10:g.3307416_3307417dup, NC_000001.10:g.3307415_3307417dup, NC_000001.10:g.3307414_3307417dup, NC_000001.10:g.3307413_3307417dup, NG_029576.2:g.326674_326676del, NG_029576.2:g.326675_326676del, NG_029576.2:g.326676del, NG_029576.2:g.326676dup, NG_029576.2:g.326675_326676dup, NG_029576.2:g.326674_326676dup, NG_029576.2:g.326673_326676dup, NG_029576.2:g.326672_326676dup

Select item 149148852919.

rs1491488529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 1:3114219 (GRCh38)
1:3030784 (GRCh37)
Canonical SPDI:: NC_000001.11:3114219:C:CGC
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.3114220_3114221insGC, NC_000001.10:g.3030784_3030785insGC, NG_029576.2:g.50043_50044insGC

Select item 149147747820.

rs1491477478 has merged into rs143413205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,ACAC,ACACACAC [Show Flanks]
Chromosome:: 1:3114221 (GRCh38)
1:3030785 (GRCh37)
Canonical SPDI:: NC_000001.11:3114218:ACACACAC:AC,NC_000001.11:3114218:ACACACAC:ACACAC,NC_000001.11:3114218:ACACACAC:ACACACACAC
Gene:: PRDM16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
AC=0.15176/760 (1000Genomes)
HGVS:: NC_000001.11:g.3114219AC[1], NC_000001.11:g.3114219AC[3], NC_000001.11:g.3114219AC[5], NC_000001.10:g.3030783AC[1], NC_000001.10:g.3030783AC[3], NC_000001.10:g.3030783AC[5], NG_029576.2:g.50042AC[1], NG_029576.2:g.50042AC[3], NG_029576.2:g.50042AC[5]

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