SNP Links for Gene (Select 9419) - SNP

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Select item 14914014491.

rs1491401449 has merged into rs3832038 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCG>-,CG,CGCG,CGCGCGCG [Show Flanks]
Chromosome:: 2:46616058 (GRCh38)
2:46843197 (GRCh37)
Canonical SPDI:: NC_000002.12:46616049:CGCGCGCGCGCGCG:CGCGCGCG,NC_000002.12:46616049:CGCGCGCGCGCGCG:CGCGCGCGCG,NC_000002.12:46616049:CGCGCGCGCGCGCG:CGCGCGCGCGCG,NC_000002.12:46616049:CGCGCGCGCGCGCG:CGCGCGCGCGCGCGCG
Gene:: PIGF (Varview), CRIPT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCG=0./0 (ALFA)
-=0.000778/3 (ALSPAC)
-=0.173581/318 (Korea1K)
-=0.401667/241 (NorthernSweden)
-=0.440882/440 (GoNL)
-=0.445487/1994 (Estonian)
-=0.468145/2344 (1000Genomes)
-=0.492856/130454 (TOPMED)
CG=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.46616050CG[4], NC_000002.12:g.46616050CG[5], NC_000002.12:g.46616050CG[6], NC_000002.12:g.46616050CG[8], NC_000002.11:g.46843189CG[4], NC_000002.11:g.46843189CG[5], NC_000002.11:g.46843189CG[6], NC_000002.11:g.46843189CG[8], NG_034144.1:g.3879CG[4], NG_034144.1:g.3879CG[5], NG_034144.1:g.3879CG[6], NG_034144.1:g.3879CG[8]

Select item 14913089862.

rs1491308986 has merged into rs143660848 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:46625387 (GRCh38)
2:46852526 (GRCh37)
Canonical SPDI:: NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.46625387_46625403del, NC_000002.12:g.46625388_46625403del, NC_000002.12:g.46625389_46625403del, NC_000002.12:g.46625390_46625403del, NC_000002.12:g.46625391_46625403del, NC_000002.12:g.46625392_46625403del, NC_000002.12:g.46625393_46625403del, NC_000002.12:g.46625394_46625403del, NC_000002.12:g.46625395_46625403del, NC_000002.12:g.46625396_46625403del, NC_000002.12:g.46625397_46625403del, NC_000002.12:g.46625398_46625403del, NC_000002.12:g.46625399_46625403del, NC_000002.12:g.46625400_46625403del, NC_000002.12:g.46625401_46625403del, NC_000002.12:g.46625402_46625403del, NC_000002.12:g.46625403del, NC_000002.12:g.46625403dup, NC_000002.12:g.46625402_46625403dup, NC_000002.12:g.46625401_46625403dup, NC_000002.12:g.46625400_46625403dup, NC_000002.12:g.46625389_46625403dup, NC_000002.11:g.46852526_46852542del, NC_000002.11:g.46852527_46852542del, NC_000002.11:g.46852528_46852542del, NC_000002.11:g.46852529_46852542del, NC_000002.11:g.46852530_46852542del, NC_000002.11:g.46852531_46852542del, NC_000002.11:g.46852532_46852542del, NC_000002.11:g.46852533_46852542del, NC_000002.11:g.46852534_46852542del, NC_000002.11:g.46852535_46852542del, NC_000002.11:g.46852536_46852542del, NC_000002.11:g.46852537_46852542del, NC_000002.11:g.46852538_46852542del, NC_000002.11:g.46852539_46852542del, NC_000002.11:g.46852540_46852542del, NC_000002.11:g.46852541_46852542del, NC_000002.11:g.46852542del, NC_000002.11:g.46852542dup, NC_000002.11:g.46852541_46852542dup, NC_000002.11:g.46852540_46852542dup, NC_000002.11:g.46852539_46852542dup, NC_000002.11:g.46852528_46852542dup, NG_034144.1:g.13216_13232del, NG_034144.1:g.13217_13232del, NG_034144.1:g.13218_13232del, NG_034144.1:g.13219_13232del, NG_034144.1:g.13220_13232del, NG_034144.1:g.13221_13232del, NG_034144.1:g.13222_13232del, NG_034144.1:g.13223_13232del, NG_034144.1:g.13224_13232del, NG_034144.1:g.13225_13232del, NG_034144.1:g.13226_13232del, NG_034144.1:g.13227_13232del, NG_034144.1:g.13228_13232del, NG_034144.1:g.13229_13232del, NG_034144.1:g.13230_13232del, NG_034144.1:g.13231_13232del, NG_034144.1:g.13232del, NG_034144.1:g.13232dup, NG_034144.1:g.13231_13232dup, NG_034144.1:g.13230_13232dup, NG_034144.1:g.13229_13232dup, NG_034144.1:g.13218_13232dup, NM_014171.6:c.*1160_*1176del, NM_014171.6:c.*1161_*1176del, NM_014171.6:c.*1162_*1176del, NM_014171.6:c.*1163_*1176del, NM_014171.6:c.*1164_*1176del, NM_014171.6:c.*1165_*1176del, NM_014171.6:c.*1166_*1176del, NM_014171.6:c.*1167_*1176del, NM_014171.6:c.*1168_*1176del, NM_014171.6:c.*1169_*1176del, NM_014171.6:c.*1170_*1176del, NM_014171.6:c.*1171_*1176del, NM_014171.6:c.*1172_*1176del, NM_014171.6:c.*1173_*1176del, NM_014171.6:c.*1174_*1176del, NM_014171.6:c.*1175_*1176del, NM_014171.6:c.*1176del, NM_014171.6:c.*1176dup, NM_014171.6:c.*1175_*1176dup, NM_014171.6:c.*1174_*1176dup, NM_014171.6:c.*1173_*1176dup, NM_014171.6:c.*1162_*1176dup, NM_014171.5:c.*1160_*1176del, NM_014171.5:c.*1161_*1176del, NM_014171.5:c.*1162_*1176del, NM_014171.5:c.*1163_*1176del, NM_014171.5:c.*1164_*1176del, NM_014171.5:c.*1165_*1176del, NM_014171.5:c.*1166_*1176del, NM_014171.5:c.*1167_*1176del, NM_014171.5:c.*1168_*1176del, NM_014171.5:c.*1169_*1176del, NM_014171.5:c.*1170_*1176del, NM_014171.5:c.*1171_*1176del, NM_014171.5:c.*1172_*1176del, NM_014171.5:c.*1173_*1176del, NM_014171.5:c.*1174_*1176del, NM_014171.5:c.*1175_*1176del, NM_014171.5:c.*1176del, NM_014171.5:c.*1176dup, NM_014171.5:c.*1175_*1176dup, NM_014171.5:c.*1174_*1176dup, NM_014171.5:c.*1173_*1176dup, NM_014171.5:c.*1162_*1176dup, NM_014171.4:c.*1160_*1176del, NM_014171.4:c.*1161_*1176del, NM_014171.4:c.*1162_*1176del, NM_014171.4:c.*1163_*1176del, NM_014171.4:c.*1164_*1176del, NM_014171.4:c.*1165_*1176del, NM_014171.4:c.*1166_*1176del, NM_014171.4:c.*1167_*1176del, NM_014171.4:c.*1168_*1176del, NM_014171.4:c.*1169_*1176del, NM_014171.4:c.*1170_*1176del, NM_014171.4:c.*1171_*1176del, NM_014171.4:c.*1172_*1176del, NM_014171.4:c.*1173_*1176del, NM_014171.4:c.*1174_*1176del, NM_014171.4:c.*1175_*1176del, NM_014171.4:c.*1176del, NM_014171.4:c.*1176dup, NM_014171.4:c.*1175_*1176dup, NM_014171.4:c.*1174_*1176dup, NM_014171.4:c.*1173_*1176dup, NM_014171.4:c.*1162_*1176dup

Select item 14912659213.

rs1491265921 has merged into rs34432167 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATGTAATAATATTATTATATATATATATATAT [Show Flanks]
Chromosome:: 2:46620700 (GRCh38)
2:46847839 (GRCh37)
Canonical SPDI:: NC_000002.12:46620686:TATATATATATATAT:TATATATATATAT,NC_000002.12:46620686:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:46620686:TATATATATATATAT:TATATATATATATATATAT,NC_000002.12:46620686:TATATATATATATAT:TATATATATATATATATATAT,NC_000002.12:46620686:TATATATATATATAT:TATATATATATATATATATATAT,NC_000002.12:46620686:TATATATATATATAT:TATATATATATATATATGTAATAATATTATTATATATATATATATAT
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
-=0.03001/93 (1000Genomes)
TA=0.11869/1989 (TOMMO)
TA=0.34211/13 (GENOME_DK)
HGVS:: NC_000002.12:g.46620688AT[6], NC_000002.12:g.46620688AT[8], NC_000002.12:g.46620688AT[9], NC_000002.12:g.46620688AT[10], NC_000002.12:g.46620688AT[11], NC_000002.12:g.46620687_46620701TA[8]TGTAATAATATTATTATATATATATATATAT[1], NC_000002.11:g.46847827AT[6], NC_000002.11:g.46847827AT[8], NC_000002.11:g.46847827AT[9], NC_000002.11:g.46847827AT[10], NC_000002.11:g.46847827AT[11], NC_000002.11:g.46847826_46847840TA[8]TGTAATAATATTATTATATATATATATATAT[1], NG_034144.1:g.8517AT[6], NG_034144.1:g.8517AT[8], NG_034144.1:g.8517AT[9], NG_034144.1:g.8517AT[10], NG_034144.1:g.8517AT[11], NG_034144.1:g.8516_8530TA[8]TGTAATAATATTATTATATATATATATATAT[1]

Select item 14911873484.

rs1491187348 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:46625376 (GRCh38)
2:46852516 (GRCh37)
Canonical SPDI:: NC_000002.12:46625376::C
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/3 (ALFA)
C=0.00008/2 (TOMMO)
C=0.00097/30 (GnomAD)
HGVS:: NC_000002.12:g.46625376_46625377insC, NC_000002.11:g.46852515_46852516insC, NG_034144.1:g.13205_13206insC, NM_014171.6:c.*1149_*1150insC, NM_014171.5:c.*1149_*1150insC, NM_014171.4:c.*1149_*1150insC

Select item 14911838005.

rs1491183800 has merged into rs11333819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:46624048 (GRCh38)
2:46851187 (GRCh37)
Canonical SPDI:: NC_000002.12:46624041:TTTTTTTTTT:TTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:46624041:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.074353/1246 (TOMMO)
-=0.078947/144 (Korea1K)
T=0.149953/160 (1000Genomes)
-=0.273603/72420 (TOPMED)
-=0.361111/13 (GENOME_DK)
HGVS:: NC_000002.12:g.46624048_46624051del, NC_000002.12:g.46624049_46624051del, NC_000002.12:g.46624050_46624051del, NC_000002.12:g.46624051del, NC_000002.12:g.46624051dup, NC_000002.12:g.46624050_46624051dup, NC_000002.12:g.46624049_46624051dup, NC_000002.12:g.46624044_46624051dup, NC_000002.11:g.46851187_46851190del, NC_000002.11:g.46851188_46851190del, NC_000002.11:g.46851189_46851190del, NC_000002.11:g.46851190del, NC_000002.11:g.46851190dup, NC_000002.11:g.46851189_46851190dup, NC_000002.11:g.46851188_46851190dup, NC_000002.11:g.46851183_46851190dup, NG_034144.1:g.11877_11880del, NG_034144.1:g.11878_11880del, NG_034144.1:g.11879_11880del, NG_034144.1:g.11880del, NG_034144.1:g.11880dup, NG_034144.1:g.11879_11880dup, NG_034144.1:g.11878_11880dup, NG_034144.1:g.11873_11880dup

Select item 14910828066.

rs1491082806 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:46625403 (GRCh38)
2:46852542 (GRCh37)
Canonical SPDI:: NC_000002.12:46625402:TA:
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000002.12:g.46625403_46625404del, NC_000002.11:g.46852542_46852543del, NG_034144.1:g.13232_13233del, NM_014171.6:c.*1176_*1177del, NM_014171.5:c.*1176_*1177del, NM_014171.4:c.*1176_*1177del

Select item 14907415527.

rs1490741552 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:46626084 (GRCh38)
2:46853223 (GRCh37)
Canonical SPDI:: NC_000002.12:46626083:CCCC:CCC
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.46626087del, NC_000002.11:g.46853226del, NG_034144.1:g.13916del, NM_014171.6:c.*1860del, NM_014171.5:c.*1860del

Select item 14907408368.

rs1490740836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46618796 (GRCh38)
2:46845935 (GRCh37)
Canonical SPDI:: NC_000002.12:46618795:A:G
Gene:: PIGF (Varview), CRIPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46618796A>G, NC_000002.11:g.46845935A>G, NG_034144.1:g.6625A>G, NM_014171.6:c.40A>G, NM_014171.5:c.40A>G, NM_014171.4:c.40A>G, NP_054890.1:p.Ile14Val

Select item 14907198449.

rs1490719844 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACCAAGC>- [Show Flanks]
Chromosome:: 2:46626984 (GRCh38)
2:46854123 (GRCh37)
Canonical SPDI:: NC_000002.12:46626981:GCCACCAAGC:GC
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.46626984_46626991del, NC_000002.11:g.46854123_46854130del, NG_034144.1:g.14813_14820del, NM_014171.6:c.*2757_*2764del, NM_014171.5:c.*2757_*2764del

Select item 149054168610.

rs1490541686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46620566 (GRCh38)
2:46847705 (GRCh37)
Canonical SPDI:: NC_000002.12:46620565:C:T
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.46620566C>T, NC_000002.11:g.46847705C>T, NG_034144.1:g.8395C>T

Select item 148968039411.

rs1489680394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46621650 (GRCh38)
2:46848789 (GRCh37)
Canonical SPDI:: NC_000002.12:46621649:A:G
Gene:: CRIPT (Varview)
Functional Consequence:: 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_000002.12:g.46621650A>G, NC_000002.11:g.46848789A>G, NG_034144.1:g.9479A>G

Select item 148943970112.

rs1489439701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:46624777 (GRCh38)
2:46851916 (GRCh37)
Canonical SPDI:: NC_000002.12:46624776:T:G
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46624777T>G, NC_000002.11:g.46851916T>G, NG_034144.1:g.12606T>G, NM_014171.6:c.*550T>G, NM_014171.5:c.*550T>G, NM_014171.4:c.*550T>G

Select item 148936874413.

rs1489368744 has merged into rs143660848 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:46625387 (GRCh38)
2:46852526 (GRCh37)
Canonical SPDI:: NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:46625375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.46625387_46625403del, NC_000002.12:g.46625388_46625403del, NC_000002.12:g.46625389_46625403del, NC_000002.12:g.46625390_46625403del, NC_000002.12:g.46625391_46625403del, NC_000002.12:g.46625392_46625403del, NC_000002.12:g.46625393_46625403del, NC_000002.12:g.46625394_46625403del, NC_000002.12:g.46625395_46625403del, NC_000002.12:g.46625396_46625403del, NC_000002.12:g.46625397_46625403del, NC_000002.12:g.46625398_46625403del, NC_000002.12:g.46625399_46625403del, NC_000002.12:g.46625400_46625403del, NC_000002.12:g.46625401_46625403del, NC_000002.12:g.46625402_46625403del, NC_000002.12:g.46625403del, NC_000002.12:g.46625403dup, NC_000002.12:g.46625402_46625403dup, NC_000002.12:g.46625401_46625403dup, NC_000002.12:g.46625400_46625403dup, NC_000002.12:g.46625389_46625403dup, NC_000002.11:g.46852526_46852542del, NC_000002.11:g.46852527_46852542del, NC_000002.11:g.46852528_46852542del, NC_000002.11:g.46852529_46852542del, NC_000002.11:g.46852530_46852542del, NC_000002.11:g.46852531_46852542del, NC_000002.11:g.46852532_46852542del, NC_000002.11:g.46852533_46852542del, NC_000002.11:g.46852534_46852542del, NC_000002.11:g.46852535_46852542del, NC_000002.11:g.46852536_46852542del, NC_000002.11:g.46852537_46852542del, NC_000002.11:g.46852538_46852542del, NC_000002.11:g.46852539_46852542del, NC_000002.11:g.46852540_46852542del, NC_000002.11:g.46852541_46852542del, NC_000002.11:g.46852542del, NC_000002.11:g.46852542dup, NC_000002.11:g.46852541_46852542dup, NC_000002.11:g.46852540_46852542dup, NC_000002.11:g.46852539_46852542dup, NC_000002.11:g.46852528_46852542dup, NG_034144.1:g.13216_13232del, NG_034144.1:g.13217_13232del, NG_034144.1:g.13218_13232del, NG_034144.1:g.13219_13232del, NG_034144.1:g.13220_13232del, NG_034144.1:g.13221_13232del, NG_034144.1:g.13222_13232del, NG_034144.1:g.13223_13232del, NG_034144.1:g.13224_13232del, NG_034144.1:g.13225_13232del, NG_034144.1:g.13226_13232del, NG_034144.1:g.13227_13232del, NG_034144.1:g.13228_13232del, NG_034144.1:g.13229_13232del, NG_034144.1:g.13230_13232del, NG_034144.1:g.13231_13232del, NG_034144.1:g.13232del, NG_034144.1:g.13232dup, NG_034144.1:g.13231_13232dup, NG_034144.1:g.13230_13232dup, NG_034144.1:g.13229_13232dup, NG_034144.1:g.13218_13232dup, NM_014171.6:c.*1160_*1176del, NM_014171.6:c.*1161_*1176del, NM_014171.6:c.*1162_*1176del, NM_014171.6:c.*1163_*1176del, NM_014171.6:c.*1164_*1176del, NM_014171.6:c.*1165_*1176del, NM_014171.6:c.*1166_*1176del, NM_014171.6:c.*1167_*1176del, NM_014171.6:c.*1168_*1176del, NM_014171.6:c.*1169_*1176del, NM_014171.6:c.*1170_*1176del, NM_014171.6:c.*1171_*1176del, NM_014171.6:c.*1172_*1176del, NM_014171.6:c.*1173_*1176del, NM_014171.6:c.*1174_*1176del, NM_014171.6:c.*1175_*1176del, NM_014171.6:c.*1176del, NM_014171.6:c.*1176dup, NM_014171.6:c.*1175_*1176dup, NM_014171.6:c.*1174_*1176dup, NM_014171.6:c.*1173_*1176dup, NM_014171.6:c.*1162_*1176dup, NM_014171.5:c.*1160_*1176del, NM_014171.5:c.*1161_*1176del, NM_014171.5:c.*1162_*1176del, NM_014171.5:c.*1163_*1176del, NM_014171.5:c.*1164_*1176del, NM_014171.5:c.*1165_*1176del, NM_014171.5:c.*1166_*1176del, NM_014171.5:c.*1167_*1176del, NM_014171.5:c.*1168_*1176del, NM_014171.5:c.*1169_*1176del, NM_014171.5:c.*1170_*1176del, NM_014171.5:c.*1171_*1176del, NM_014171.5:c.*1172_*1176del, NM_014171.5:c.*1173_*1176del, NM_014171.5:c.*1174_*1176del, NM_014171.5:c.*1175_*1176del, NM_014171.5:c.*1176del, NM_014171.5:c.*1176dup, NM_014171.5:c.*1175_*1176dup, NM_014171.5:c.*1174_*1176dup, NM_014171.5:c.*1173_*1176dup, NM_014171.5:c.*1162_*1176dup, NM_014171.4:c.*1160_*1176del, NM_014171.4:c.*1161_*1176del, NM_014171.4:c.*1162_*1176del, NM_014171.4:c.*1163_*1176del, NM_014171.4:c.*1164_*1176del, NM_014171.4:c.*1165_*1176del, NM_014171.4:c.*1166_*1176del, NM_014171.4:c.*1167_*1176del, NM_014171.4:c.*1168_*1176del, NM_014171.4:c.*1169_*1176del, NM_014171.4:c.*1170_*1176del, NM_014171.4:c.*1171_*1176del, NM_014171.4:c.*1172_*1176del, NM_014171.4:c.*1173_*1176del, NM_014171.4:c.*1174_*1176del, NM_014171.4:c.*1175_*1176del, NM_014171.4:c.*1176del, NM_014171.4:c.*1176dup, NM_014171.4:c.*1175_*1176dup, NM_014171.4:c.*1174_*1176dup, NM_014171.4:c.*1173_*1176dup, NM_014171.4:c.*1162_*1176dup

Select item 148926796114.

rs1489267961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:46615921 (GRCh38)
2:46843060 (GRCh37)
Canonical SPDI:: NC_000002.12:46615920:G:C
Gene:: PIGF (Varview), CRIPT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.46615921G>C, NC_000002.11:g.46843060G>C, NG_034144.1:g.3750G>C

Select item 148917566915.

rs1489175669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:46623241 (GRCh38)
2:46850380 (GRCh37)
Canonical SPDI:: NC_000002.12:46623240:A:G,NC_000002.12:46623240:A:T
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46623241A>G, NC_000002.12:g.46623241A>T, NC_000002.11:g.46850380A>G, NC_000002.11:g.46850380A>T, NG_034144.1:g.11070A>G, NG_034144.1:g.11070A>T

Select item 148916998316.

rs1489169983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46627736 (GRCh38)
2:46854875 (GRCh37)
Canonical SPDI:: NC_000002.12:46627735:C:T
Gene:: CRIPT (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.46627736C>T, NC_000002.11:g.46854875C>T, NG_034144.1:g.15565C>T, NM_014171.6:c.*3509C>T, NM_014171.5:c.*3509C>T

Select item 148903205417.

rs1489032054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:46616824 (GRCh38)
2:46843963 (GRCh37)
Canonical SPDI:: NC_000002.12:46616823:C:A
Gene:: PIGF (Varview), CRIPT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.46616824C>A, NC_000002.11:g.46843963C>A, NG_034144.1:g.4653C>A

Select item 148900501118.

rs1489005011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46619255 (GRCh38)
2:46846394 (GRCh37)
Canonical SPDI:: NC_000002.12:46619254:C:T
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.46619255C>T, NC_000002.11:g.46846394C>T, NG_034144.1:g.7084C>T

Select item 148895302319.

rs1488953023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:46622359 (GRCh38)
2:46849498 (GRCh37)
Canonical SPDI:: NC_000002.12:46622358:G:C
Gene:: CRIPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000045/6 (GnomAD)
HGVS:: NC_000002.12:g.46622359G>C, NC_000002.11:g.46849498G>C, NG_034144.1:g.10188G>C

Select item 148877514820.

rs1488775148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46615845 (GRCh38)
2:46842984 (GRCh37)
Canonical SPDI:: NC_000002.12:46615844:C:T
Gene:: PIGF (Varview), CRIPT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.46615845C>T, NC_000002.11:g.46842984C>T, NG_034144.1:g.3674C>T

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