SNP Links for Gene (Select 283208) - SNP

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Select item 14915715781.

rs1491571578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 11:74303293 (GRCh38)
11:74014339 (GRCh37)
Canonical SPDI:: NC_000011.10:74303293:T:TCT
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.00002/1 (GnomAD)
HGVS:: NC_000011.10:g.74303294_74303295insCT, NC_000011.9:g.74014339_74014340insCT

Select item 14914626092.

rs1491462609 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:74288948 (GRCh38)
11:73999993 (GRCh37)
Canonical SPDI:: NC_000011.10:74288947:CA:
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.74288948_74288949del, NC_000011.9:g.73999993_73999994del

Select item 14913417103.

rs1491341710 has merged into rs36086552 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74288963 (GRCh38)
11:74000008 (GRCh37)
Canonical SPDI:: NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3844/1925 (1000Genomes)
HGVS:: NC_000011.10:g.74288963_74288966del, NC_000011.10:g.74288964_74288966del, NC_000011.10:g.74288965_74288966del, NC_000011.10:g.74288966del, NC_000011.10:g.74288966dup, NC_000011.10:g.74288965_74288966dup, NC_000011.10:g.74288964_74288966dup, NC_000011.10:g.74288963_74288966dup, NC_000011.10:g.74288962_74288966dup, NC_000011.10:g.74288957_74288966dup, NC_000011.10:g.74288955_74288966dup, NC_000011.9:g.74000008_74000011del, NC_000011.9:g.74000009_74000011del, NC_000011.9:g.74000010_74000011del, NC_000011.9:g.74000011del, NC_000011.9:g.74000011dup, NC_000011.9:g.74000010_74000011dup, NC_000011.9:g.74000009_74000011dup, NC_000011.9:g.74000008_74000011dup, NC_000011.9:g.74000007_74000011dup, NC_000011.9:g.74000002_74000011dup, NC_000011.9:g.74000000_74000011dup

Select item 14913264734.

rs1491326473 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912423085.

rs1491242308 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:74288949 (GRCh38)
11:73999995 (GRCh37)
Canonical SPDI:: NC_000011.10:74288949::G
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.74288949_74288950insG, NC_000011.9:g.73999994_73999995insG

Select item 14912210906.

rs1491221090 has merged into rs36086552 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74288963 (GRCh38)
11:74000008 (GRCh37)
Canonical SPDI:: NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74288948:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3844/1925 (1000Genomes)
HGVS:: NC_000011.10:g.74288963_74288966del, NC_000011.10:g.74288964_74288966del, NC_000011.10:g.74288965_74288966del, NC_000011.10:g.74288966del, NC_000011.10:g.74288966dup, NC_000011.10:g.74288965_74288966dup, NC_000011.10:g.74288964_74288966dup, NC_000011.10:g.74288963_74288966dup, NC_000011.10:g.74288962_74288966dup, NC_000011.10:g.74288957_74288966dup, NC_000011.10:g.74288955_74288966dup, NC_000011.9:g.74000008_74000011del, NC_000011.9:g.74000009_74000011del, NC_000011.9:g.74000010_74000011del, NC_000011.9:g.74000011del, NC_000011.9:g.74000011dup, NC_000011.9:g.74000010_74000011dup, NC_000011.9:g.74000009_74000011dup, NC_000011.9:g.74000008_74000011dup, NC_000011.9:g.74000007_74000011dup, NC_000011.9:g.74000002_74000011dup, NC_000011.9:g.74000000_74000011dup

Select item 14911936137.

rs1491193613 has merged into rs61624292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74299680 (GRCh38)
11:74010725 (GRCh37)
Canonical SPDI:: NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74299667:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3391/1698 (1000Genomes)
HGVS:: NC_000011.10:g.74299680_74299683del, NC_000011.10:g.74299681_74299683del, NC_000011.10:g.74299682_74299683del, NC_000011.10:g.74299683del, NC_000011.10:g.74299683dup, NC_000011.10:g.74299682_74299683dup, NC_000011.10:g.74299681_74299683dup, NC_000011.10:g.74299674_74299683dup, NC_000011.9:g.74010725_74010728del, NC_000011.9:g.74010726_74010728del, NC_000011.9:g.74010727_74010728del, NC_000011.9:g.74010728del, NC_000011.9:g.74010728dup, NC_000011.9:g.74010727_74010728dup, NC_000011.9:g.74010726_74010728dup, NC_000011.9:g.74010719_74010728dup

Select item 14911212588.

rs1491121258 has merged into rs779313817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:74303302 (GRCh38)
11:74014347 (GRCh37)
Canonical SPDI:: NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:74303292:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74303302_74303312del, NC_000011.10:g.74303304_74303312del, NC_000011.10:g.74303305_74303312del, NC_000011.10:g.74303306_74303312del, NC_000011.10:g.74303307_74303312del, NC_000011.10:g.74303308_74303312del, NC_000011.10:g.74303309_74303312del, NC_000011.10:g.74303310_74303312del, NC_000011.10:g.74303311_74303312del, NC_000011.10:g.74303312del, NC_000011.10:g.74303312dup, NC_000011.10:g.74303311_74303312dup, NC_000011.10:g.74303310_74303312dup, NC_000011.10:g.74303309_74303312dup, NC_000011.10:g.74303308_74303312dup, NC_000011.10:g.74303307_74303312dup, NC_000011.10:g.74303305_74303312dup, NC_000011.9:g.74014347_74014357del, NC_000011.9:g.74014349_74014357del, NC_000011.9:g.74014350_74014357del, NC_000011.9:g.74014351_74014357del, NC_000011.9:g.74014352_74014357del, NC_000011.9:g.74014353_74014357del, NC_000011.9:g.74014354_74014357del, NC_000011.9:g.74014355_74014357del, NC_000011.9:g.74014356_74014357del, NC_000011.9:g.74014357del, NC_000011.9:g.74014357dup, NC_000011.9:g.74014356_74014357dup, NC_000011.9:g.74014355_74014357dup, NC_000011.9:g.74014354_74014357dup, NC_000011.9:g.74014353_74014357dup, NC_000011.9:g.74014352_74014357dup, NC_000011.9:g.74014350_74014357dup

Select item 14909350749.

rs1490935074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74276190 (GRCh38)
11:73987235 (GRCh37)
Canonical SPDI:: NC_000011.10:74276189:C:T
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.74276190C>T, NC_000011.9:g.73987235C>T

Select item 149087908910.

rs1490879089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:74292134 (GRCh38)
11:74003179 (GRCh37)
Canonical SPDI:: NC_000011.10:74292133:G:T
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.74292134G>T, NC_000011.9:g.74003179G>T

Select item 149059500811.

rs1490595008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:74302423 (GRCh38)
11:74013468 (GRCh37)
Canonical SPDI:: NC_000011.10:74302422:G:C
Gene:: P4HA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74302423G>C, NC_000011.9:g.74013468G>C, NM_182904.5:c.513C>G, NM_182904.4:c.513C>G, NM_182904.3:c.513C>G, XR_001747836.2:n.542C>G, XR_001747836.1:n.556C>G, XR_001747838.2:n.542C>G, XR_001747838.1:n.556C>G, NM_001288748.2:c.513C>G, NM_001288748.1:c.513C>G, XR_001747837.2:n.542C>G, XR_001747837.1:n.556C>G, NR_110031.2:n.508C>G, NR_110031.1:n.544C>G, XR_007062475.1:n.542C>G, XM_047426802.1:c.513C>G, NP_878907.1:p.Tyr171Ter, NP_001275677.1:p.Tyr171Ter, XP_047282758.1:p.Tyr171Ter

Select item 149058662112.

rs1490586621 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:74266604 (GRCh38)
11:73977649 (GRCh37)
Canonical SPDI:: NC_000011.10:74266603:CCC:CC
Gene:: P4HA3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74266606del, NC_000011.9:g.73977651del

Select item 149056423513.

rs1490564235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:74282131 (GRCh38)
11:73993176 (GRCh37)
Canonical SPDI:: NC_000011.10:74282130:A:C,NC_000011.10:74282130:A:T
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
C=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.74282131A>C, NC_000011.10:g.74282131A>T, NC_000011.9:g.73993176A>C, NC_000011.9:g.73993176A>T

Select item 149056384114.

rs1490563841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74290976 (GRCh38)
11:74002021 (GRCh37)
Canonical SPDI:: NC_000011.10:74290975:G:A
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74290976G>A, NC_000011.9:g.74002021G>A

Select item 149050019115.

rs1490500191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74273768 (GRCh38)
11:73984813 (GRCh37)
Canonical SPDI:: NC_000011.10:74273767:G:A
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.74273768G>A, NC_000011.9:g.73984813G>A

Select item 149029206916.

rs1490292069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:74298092 (GRCh38)
11:74009137 (GRCh37)
Canonical SPDI:: NC_000011.10:74298091:G:A,NC_000011.10:74298091:G:T
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74298092G>A, NC_000011.10:g.74298092G>T, NC_000011.9:g.74009137G>A, NC_000011.9:g.74009137G>T

Select item 149028211917.

rs1490282119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:74311456 (GRCh38)
11:74022501 (GRCh37)
Canonical SPDI:: NC_000011.10:74311455:C:G,NC_000011.10:74311455:C:T
Gene:: P4HA3 (Varview), P4HA3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,synonymous_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_000011.10:g.74311456C>G, NC_000011.10:g.74311456C>T, NC_000011.9:g.74022501C>G, NC_000011.9:g.74022501C>T, NM_182904.5:c.156G>C, NM_182904.5:c.156G>A, NM_182904.4:c.156G>C, NM_182904.4:c.156G>A, NM_182904.3:c.156G>C, NM_182904.3:c.156G>A, XR_001747836.2:n.185G>C, XR_001747836.2:n.185G>A, XR_001747836.1:n.199G>C, XR_001747836.1:n.199G>A, XR_001747838.2:n.185G>C, XR_001747838.2:n.185G>A, XR_001747838.1:n.199G>C, XR_001747838.1:n.199G>A, NM_001288748.2:c.156G>C, NM_001288748.2:c.156G>A, NM_001288748.1:c.156G>C, NM_001288748.1:c.156G>A, XR_001747837.2:n.185G>C, XR_001747837.2:n.185G>A, XR_001747837.1:n.199G>C, XR_001747837.1:n.199G>A, NR_110031.2:n.185G>C, NR_110031.2:n.185G>A, NR_110031.1:n.221G>C, NR_110031.1:n.221G>A, XR_007062475.1:n.185G>C, XR_007062475.1:n.185G>A, XM_047426802.1:c.156G>C, XM_047426802.1:c.156G>A, NP_878907.1:p.Arg52Ser, NP_001275677.1:p.Arg52Ser, XP_047282758.1:p.Arg52Ser

Select item 149023061418.

rs1490230614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74302319 (GRCh38)
11:74013364 (GRCh37)
Canonical SPDI:: NC_000011.10:74302318:T:C
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.74302319T>C, NC_000011.9:g.74013364T>C

Select item 149012785519.

rs1490127855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74265098 (GRCh38)
11:73976143 (GRCh37)
Canonical SPDI:: NC_000011.10:74265097:T:C
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000011.10:g.74265098T>C, NC_000011.9:g.73976143T>C

Select item 149009738320.

rs1490097383 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGG>- [Show Flanks]
Chromosome:: 11:74266111 (GRCh38)
11:73977156 (GRCh37)
Canonical SPDI:: NC_000011.10:74266109:GTGG:G
Gene:: P4HA3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74266111_74266113del, NC_000011.9:g.73977156_73977158del

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