SNP Links for Gene (Select 5132) - SNP

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Select item 14915588331.

rs1491558833 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACAAAA [Show Flanks]
Chromosome:: 1:186455798 (GRCh38)
1:186424931 (GRCh37)
Canonical SPDI:: NC_000001.11:186455798:AAAA:AAAATACAAAA
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.186455799_186455802A[4]TACAAAA[1], NC_000001.10:g.186424931_186424934A[4]TACAAAA[1], NG_009101.1:g.10306_10309T[4]GTATTTT[1]

Select item 14914578832.

rs1491457883 has merged into rs71104862 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:186455810 (GRCh38)
1:186424942 (GRCh37)
Canonical SPDI:: NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455797:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.0057/3 (NorthernSweden)
HGVS:: NC_000001.11:g.186455810_186455822del, NC_000001.11:g.186455811_186455822del, NC_000001.11:g.186455812_186455822del, NC_000001.11:g.186455813_186455822del, NC_000001.11:g.186455815_186455822del, NC_000001.11:g.186455816_186455822del, NC_000001.11:g.186455817_186455822del, NC_000001.11:g.186455818_186455822del, NC_000001.11:g.186455819_186455822del, NC_000001.11:g.186455820_186455822del, NC_000001.11:g.186455821_186455822del, NC_000001.11:g.186455822del, NC_000001.11:g.186455822dup, NC_000001.11:g.186455821_186455822dup, NC_000001.11:g.186455820_186455822dup, NC_000001.11:g.186455819_186455822dup, NC_000001.11:g.186455818_186455822dup, NC_000001.11:g.186455817_186455822dup, NC_000001.11:g.186455816_186455822dup, NC_000001.11:g.186455815_186455822dup, NC_000001.11:g.186455814_186455822dup, NC_000001.11:g.186455813_186455822dup, NC_000001.11:g.186455812_186455822dup, NC_000001.11:g.186455811_186455822dup, NC_000001.11:g.186455810_186455822dup, NC_000001.11:g.186455809_186455822dup, NC_000001.11:g.186455808_186455822dup, NC_000001.11:g.186455807_186455822dup, NC_000001.11:g.186455806_186455822dup, NC_000001.11:g.186455805_186455822dup, NC_000001.11:g.186455804_186455822dup, NC_000001.11:g.186455803_186455822dup, NC_000001.11:g.186455802_186455822dup, NC_000001.11:g.186455801_186455822dup, NC_000001.10:g.186424942_186424954del, NC_000001.10:g.186424943_186424954del, NC_000001.10:g.186424944_186424954del, NC_000001.10:g.186424945_186424954del, NC_000001.10:g.186424947_186424954del, NC_000001.10:g.186424948_186424954del, NC_000001.10:g.186424949_186424954del, NC_000001.10:g.186424950_186424954del, NC_000001.10:g.186424951_186424954del, NC_000001.10:g.186424952_186424954del, NC_000001.10:g.186424953_186424954del, NC_000001.10:g.186424954del, NC_000001.10:g.186424954dup, NC_000001.10:g.186424953_186424954dup, NC_000001.10:g.186424952_186424954dup, NC_000001.10:g.186424951_186424954dup, NC_000001.10:g.186424950_186424954dup, NC_000001.10:g.186424949_186424954dup, NC_000001.10:g.186424948_186424954dup, NC_000001.10:g.186424947_186424954dup, NC_000001.10:g.186424946_186424954dup, NC_000001.10:g.186424945_186424954dup, NC_000001.10:g.186424944_186424954dup, NC_000001.10:g.186424943_186424954dup, NC_000001.10:g.186424942_186424954dup, NC_000001.10:g.186424941_186424954dup, NC_000001.10:g.186424940_186424954dup, NC_000001.10:g.186424939_186424954dup, NC_000001.10:g.186424938_186424954dup, NC_000001.10:g.186424937_186424954dup, NC_000001.10:g.186424936_186424954dup, NC_000001.10:g.186424935_186424954dup, NC_000001.10:g.186424934_186424954dup, NC_000001.10:g.186424933_186424954dup, NG_009101.1:g.10298_10310del, NG_009101.1:g.10299_10310del, NG_009101.1:g.10300_10310del, NG_009101.1:g.10301_10310del, NG_009101.1:g.10303_10310del, NG_009101.1:g.10304_10310del, NG_009101.1:g.10305_10310del, NG_009101.1:g.10306_10310del, NG_009101.1:g.10307_10310del, NG_009101.1:g.10308_10310del, NG_009101.1:g.10309_10310del, NG_009101.1:g.10310del, NG_009101.1:g.10310dup, NG_009101.1:g.10309_10310dup, NG_009101.1:g.10308_10310dup, NG_009101.1:g.10307_10310dup, NG_009101.1:g.10306_10310dup, NG_009101.1:g.10305_10310dup, NG_009101.1:g.10304_10310dup, NG_009101.1:g.10303_10310dup, NG_009101.1:g.10302_10310dup, NG_009101.1:g.10301_10310dup, NG_009101.1:g.10300_10310dup, NG_009101.1:g.10299_10310dup, NG_009101.1:g.10298_10310dup, NG_009101.1:g.10297_10310dup, NG_009101.1:g.10296_10310dup, NG_009101.1:g.10295_10310dup, NG_009101.1:g.10294_10310dup, NG_009101.1:g.10293_10310dup, NG_009101.1:g.10292_10310dup, NG_009101.1:g.10291_10310dup, NG_009101.1:g.10290_10310dup, NG_009101.1:g.10289_10310dup

Select item 14914042813.

rs1491404281 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:186455972 (GRCh38)
1:186425105 (GRCh37)
Canonical SPDI:: NC_000001.11:186455972:A:AGA
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.186455973_186455974insGA, NC_000001.10:g.186425105_186425106insGA, NG_009101.1:g.10135_10136insCT

Select item 14911559354.

rs1491155935 has merged into rs1213649798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:186455985 (GRCh38)
1:186425117 (GRCh37)
Canonical SPDI:: NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:186455971:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.186455985_186455995del, NC_000001.11:g.186455991_186455995del, NC_000001.11:g.186455992_186455995del, NC_000001.11:g.186455993_186455995del, NC_000001.11:g.186455994_186455995del, NC_000001.11:g.186455995del, NC_000001.11:g.186455995dup, NC_000001.11:g.186455994_186455995dup, NC_000001.11:g.186455993_186455995dup, NC_000001.11:g.186455992_186455995dup, NC_000001.11:g.186455991_186455995dup, NC_000001.11:g.186455990_186455995dup, NC_000001.11:g.186455989_186455995dup, NC_000001.11:g.186455988_186455995dup, NC_000001.11:g.186455987_186455995dup, NC_000001.10:g.186425117_186425127del, NC_000001.10:g.186425123_186425127del, NC_000001.10:g.186425124_186425127del, NC_000001.10:g.186425125_186425127del, NC_000001.10:g.186425126_186425127del, NC_000001.10:g.186425127del, NC_000001.10:g.186425127dup, NC_000001.10:g.186425126_186425127dup, NC_000001.10:g.186425125_186425127dup, NC_000001.10:g.186425124_186425127dup, NC_000001.10:g.186425123_186425127dup, NC_000001.10:g.186425122_186425127dup, NC_000001.10:g.186425121_186425127dup, NC_000001.10:g.186425120_186425127dup, NC_000001.10:g.186425119_186425127dup, NG_009101.1:g.10126_10136del, NG_009101.1:g.10132_10136del, NG_009101.1:g.10133_10136del, NG_009101.1:g.10134_10136del, NG_009101.1:g.10135_10136del, NG_009101.1:g.10136del, NG_009101.1:g.10136dup, NG_009101.1:g.10135_10136dup, NG_009101.1:g.10134_10136dup, NG_009101.1:g.10133_10136dup, NG_009101.1:g.10132_10136dup, NG_009101.1:g.10131_10136dup, NG_009101.1:g.10130_10136dup, NG_009101.1:g.10129_10136dup, NG_009101.1:g.10128_10136dup

Select item 14910336405.

rs1491033640 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:186455796 (GRCh38)
1:186424928 (GRCh37)
Canonical SPDI:: NC_000001.11:186455795:CT:
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.186455796_186455797del, NC_000001.10:g.186424928_186424929del, NG_009101.1:g.10311_10312del

Select item 14907452176.

rs1490745217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 1:186459899 (GRCh38)
1:186429031 (GRCh37)
Canonical SPDI:: NC_000001.11:186459889:TAATAATAATAA:TAATAATAA
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAATAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.186459890TAA[3], NC_000001.10:g.186429022TAA[3], NG_009101.1:g.6207TTA[3]

Select item 14907136637.

rs1490713663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186462696 (GRCh38)
1:186431828 (GRCh37)
Canonical SPDI:: NC_000001.11:186462695:G:A
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.186462696G>A, NC_000001.10:g.186431828G>A, NG_009101.1:g.3412C>T

Select item 14905811498.

rs1490581149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186458973 (GRCh38)
1:186428105 (GRCh37)
Canonical SPDI:: NC_000001.11:186458972:G:A
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.186458973G>A, NC_000001.10:g.186428105G>A, NG_009101.1:g.7135C>T

Select item 14899568779.

rs1489956877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186456021 (GRCh38)
1:186425153 (GRCh37)
Canonical SPDI:: NC_000001.11:186456020:A:G
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186456021A>G, NC_000001.10:g.186425153A>G, NG_009101.1:g.10087T>C

Select item 148976904510.

rs1489769045 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTACA>- [Show Flanks]
Chromosome:: 1:186455320 (GRCh38)
1:186424452 (GRCh37)
Canonical SPDI:: NC_000001.11:186455319:TCTACA:
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.186455320_186455325del, NC_000001.10:g.186424452_186424457del, NG_009101.1:g.10783_10788del

Select item 148973959711.

rs1489739597 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 1:186457685 (GRCh38)
1:186426817 (GRCh37)
Canonical SPDI:: NC_000001.11:186457682:ATCAT:AT
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.186457685_186457687del, NC_000001.10:g.186426817_186426819del, NG_009101.1:g.8423_8425del

Select item 148967905012.

rs1489679050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:186459926 (GRCh38)
1:186429058 (GRCh37)
Canonical SPDI:: NC_000001.11:186459925:A:C,NC_000001.11:186459925:A:T
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.186459926A>C, NC_000001.11:g.186459926A>T, NC_000001.10:g.186429058A>C, NC_000001.10:g.186429058A>T, NG_009101.1:g.6182T>G, NG_009101.1:g.6182T>A

Select item 148962047313.

rs1489620473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:186447229 (GRCh38)
1:186416361 (GRCh37)
Canonical SPDI:: NC_000001.11:186447228:A:C,NC_000001.11:186447228:A:G
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.004367/8 (Korea1K)
HGVS:: NC_000001.11:g.186447229A>C, NC_000001.11:g.186447229A>G, NC_000001.10:g.186416361A>C, NC_000001.10:g.186416361A>G, NG_009101.1:g.18879T>G, NG_009101.1:g.18879T>C

Select item 148954434914.

rs1489544349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186448528 (GRCh38)
1:186417660 (GRCh37)
Canonical SPDI:: NC_000001.11:186448527:G:A
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186448528G>A, NC_000001.10:g.186417660G>A, NG_009101.1:g.17580C>T

Select item 148930313115.

rs1489303131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:186457335 (GRCh38)
1:186426467 (GRCh37)
Canonical SPDI:: NC_000001.11:186457334:A:C,NC_000001.11:186457334:A:T
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186457335A>C, NC_000001.11:g.186457335A>T, NC_000001.10:g.186426467A>C, NC_000001.10:g.186426467A>T, NG_009101.1:g.8773T>G, NG_009101.1:g.8773T>A

Select item 148919906316.

rs1489199063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:186444558 (GRCh38)
1:186413690 (GRCh37)
Canonical SPDI:: NC_000001.11:186444557:G:T
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186444558G>T, NC_000001.10:g.186413690G>T, NG_009101.1:g.21550C>A

Select item 148915465617.

rs1489154656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:186448349 (GRCh38)
1:186417481 (GRCh37)
Canonical SPDI:: NC_000001.11:186448348:C:T
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.186448349C>T, NC_000001.10:g.186417481C>T, NG_009101.1:g.17759G>A

Select item 148902407218.

rs1489024072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186449854 (GRCh38)
1:186418986 (GRCh37)
Canonical SPDI:: NC_000001.11:186449853:T:C
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.186449854T>C, NC_000001.10:g.186418986T>C, NG_009101.1:g.16254A>G

Select item 148892809719.

rs1488928097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186457926 (GRCh38)
1:186427058 (GRCh37)
Canonical SPDI:: NC_000001.11:186457925:A:G
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.186457926A>G, NC_000001.10:g.186427058A>G, NG_009101.1:g.8182T>C

Select item 148883249420.

rs1488832494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186456655 (GRCh38)
1:186425787 (GRCh37)
Canonical SPDI:: NC_000001.11:186456654:T:C
Gene:: PDC (Varview), PDC-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186456655T>C, NC_000001.10:g.186425787T>C, NG_009101.1:g.9453A>G

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