Links from Gene
Items: 1 to 20 of 8133
1.
rs1491363718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGG>-,TGGTGG
[Show Flanks]
- Chromosome:
- 1:119726235
(GRCh38)
1:120268858
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119726225:TGGTGGTGGTGG:TGGTGGTGG,NC_000001.11:119726225:TGGTGGTGGTGG:TGGTGGTGGTGGTGG
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGGTGGTGGTGGTGG=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491301072 has merged into rs34338933 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 1:119733526
(GRCh38)
1:120276149
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119733518:GGGGGGGGGG:GGGGGGG,NC_000001.11:119733518:GGGGGGGGGG:GGGGGGGG,NC_000001.11:119733518:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:119733518:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:119733518:GGGGGGGGGG:GGGGGGGGGGGG
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
G=0.282/1087
(ALSPAC)
G=0.2983/1106
(TWINSUK)
G=0.325/13
(GENOME_DK)
G=0.3881/229
(NorthernSweden)
G=0.4603/2305
(1000Genomes)
- HGVS:
NC_000001.11:g.119733526_119733528del, NC_000001.11:g.119733527_119733528del, NC_000001.11:g.119733528del, NC_000001.11:g.119733528dup, NC_000001.11:g.119733527_119733528dup, NC_000001.10:g.120276149_120276151del, NC_000001.10:g.120276150_120276151del, NC_000001.10:g.120276151del, NC_000001.10:g.120276151dup, NC_000001.10:g.120276150_120276151dup, NG_009188.1:g.26731_26733del, NG_009188.1:g.26732_26733del, NG_009188.1:g.26733del, NG_009188.1:g.26733dup, NG_009188.1:g.26732_26733dup
3.
rs1491220225 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:119726225
(GRCh38)
1:120268848
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119726224:TT:
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000033/4
(GnomAD)
- HGVS:
5.
rs1491170357 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C
[Show Flanks]
- Chromosome:
- 1:119733519
(GRCh38)
1:120276143
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119733519::A,NC_000001.11:119733519::C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
A=0.000119/1
(GnomAD)
- HGVS:
6.
rs1491073819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:119742782
(GRCh38)
1:120285405
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119742780:ACA:A
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1491073734 has merged into rs34327221 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:119724674
(GRCh38)
1:120267297
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:119724659:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0.0001/1
(
ALFA)
- HGVS:
NC_000001.11:g.119724674_119724676del, NC_000001.11:g.119724675_119724676del, NC_000001.11:g.119724676del, NC_000001.11:g.119724676dup, NC_000001.11:g.119724675_119724676dup, NC_000001.11:g.119724674_119724676dup, NC_000001.11:g.119724672_119724676dup, NC_000001.11:g.119724669_119724676dup, NC_000001.11:g.119724666_119724676dup, NC_000001.10:g.120267297_120267299del, NC_000001.10:g.120267298_120267299del, NC_000001.10:g.120267299del, NC_000001.10:g.120267299dup, NC_000001.10:g.120267298_120267299dup, NC_000001.10:g.120267297_120267299dup, NC_000001.10:g.120267295_120267299dup, NC_000001.10:g.120267292_120267299dup, NC_000001.10:g.120267289_120267299dup, NG_009188.1:g.17879_17881del, NG_009188.1:g.17880_17881del, NG_009188.1:g.17881del, NG_009188.1:g.17881dup, NG_009188.1:g.17880_17881dup, NG_009188.1:g.17879_17881dup, NG_009188.1:g.17877_17881dup, NG_009188.1:g.17874_17881dup, NG_009188.1:g.17871_17881dup
8.
rs1490979629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 1:119724662
(GRCh38)
1:120267286
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119724662:T:TAT
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0.000084/1
(
ALFA)
TA=0.00005/7
(GnomAD)
- HGVS:
9.
rs1490949024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:119722529
(GRCh38)
1:120265152
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119722528:C:T
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490849901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:119724403
(GRCh38)
1:120267026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119724402:T:G
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.119724403T>G, NC_000001.10:g.120267026T>G, NG_009188.1:g.17608T>G, XM_011541226.3:c.441T>G, XM_011541226.2:c.441T>G, XM_011541226.1:c.441T>G, XM_011541227.3:c.363T>G, XM_011541227.2:c.363T>G, XM_011541227.1:c.363T>G, XM_011541228.3:c.330T>G, XM_011541228.2:c.330T>G, XM_011541228.1:c.330T>G, XR_007058634.1:n.530T>G, XM_047417680.1:c.156T>G, XM_047417683.1:c.-96T>G, XP_011539528.1:p.Ile147Met, XP_011539529.1:p.Ile121Met, XP_011539530.1:p.Ile110Met, XP_047273636.1:p.Ile52Met
11.
rs1490577550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:119737132
(GRCh38)
1:120279755
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119737131:G:T
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.119737132G>T, NC_000001.10:g.120279755G>T, NG_009188.1:g.30337G>T, NM_006623.4:c.811G>T, NM_006623.3:c.811G>T, XM_011541226.3:c.1033G>T, XM_011541226.2:c.1033G>T, XM_011541226.1:c.1033G>T, XM_011541227.3:c.955G>T, XM_011541227.2:c.955G>T, XM_011541227.1:c.955G>T, XM_011541228.3:c.922G>T, XM_011541228.2:c.922G>T, XM_011541228.1:c.922G>T, XM_047417680.1:c.748G>T, XM_047417682.1:c.526G>T, XM_047417683.1:c.517G>T, NP_006614.2:p.Ala271Ser, XP_011539528.1:p.Ala345Ser, XP_011539529.1:p.Ala319Ser, XP_011539530.1:p.Ala308Ser, XP_047273636.1:p.Ala250Ser, XP_047273638.1:p.Ala176Ser, XP_047273639.1:p.Ala173Ser
12.
rs1490534627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119714554
(GRCh38)
1:120257177
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119714553:T:C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490487235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119725557
(GRCh38)
1:120268180
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119725556:T:C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
- HGVS:
14.
rs1490399561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:119731564
(GRCh38)
1:120274187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119731563:T:A
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490335680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119739672
(GRCh38)
1:120282295
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119739671:T:C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490131002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119721408
(GRCh38)
1:120264031
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119721407:A:G
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1489974219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:119732065
(GRCh38)
1:120274688
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119732064:C:T
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489959147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:119730936
(GRCh38)
1:120273559
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119730935:G:A
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
19.
rs1489925999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:119739260
(GRCh38)
1:120281883
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119739259:G:A,NC_000001.11:119739259:G:C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489584248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119716972
(GRCh38)
1:120259595
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119716971:T:C
- Gene:
- PHGDH (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS: