SNP Links for Gene (Select 728) - SNP

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Select item 14910614971.

rs1491061497 has merged into rs34731685 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:47319316 (GRCh38)
19:47822573 (GRCh37)
Canonical SPDI:: NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47319304:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0057/21 (TWINSUK)
-=0.0062/24 (ALSPAC)
T=0.4042/2024 (1000Genomes)
HGVS:: NC_000019.10:g.47319316_47319326del, NC_000019.10:g.47319317_47319326del, NC_000019.10:g.47319318_47319326del, NC_000019.10:g.47319319_47319326del, NC_000019.10:g.47319320_47319326del, NC_000019.10:g.47319321_47319326del, NC_000019.10:g.47319323_47319326del, NC_000019.10:g.47319324_47319326del, NC_000019.10:g.47319325_47319326del, NC_000019.10:g.47319326del, NC_000019.10:g.47319326dup, NC_000019.10:g.47319325_47319326dup, NC_000019.10:g.47319324_47319326dup, NC_000019.10:g.47319323_47319326dup, NC_000019.10:g.47319322_47319326dup, NC_000019.10:g.47319321_47319326dup, NC_000019.10:g.47319320_47319326dup, NC_000019.10:g.47319319_47319326dup, NC_000019.10:g.47319318_47319326dup, NC_000019.10:g.47319317_47319326dup, NC_000019.9:g.47822573_47822583del, NC_000019.9:g.47822574_47822583del, NC_000019.9:g.47822575_47822583del, NC_000019.9:g.47822576_47822583del, NC_000019.9:g.47822577_47822583del, NC_000019.9:g.47822578_47822583del, NC_000019.9:g.47822580_47822583del, NC_000019.9:g.47822581_47822583del, NC_000019.9:g.47822582_47822583del, NC_000019.9:g.47822583del, NC_000019.9:g.47822583dup, NC_000019.9:g.47822582_47822583dup, NC_000019.9:g.47822581_47822583dup, NC_000019.9:g.47822580_47822583dup, NC_000019.9:g.47822579_47822583dup, NC_000019.9:g.47822578_47822583dup, NC_000019.9:g.47822577_47822583dup, NC_000019.9:g.47822576_47822583dup, NC_000019.9:g.47822575_47822583dup, NC_000019.9:g.47822574_47822583dup

Select item 14910370772.

rs1491037077 has merged into rs34790165 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:47318893 (GRCh38)
19:47822150 (GRCh37)
Canonical SPDI:: NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47318881:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.47318893_47318904del, NC_000019.10:g.47318894_47318904del, NC_000019.10:g.47318895_47318904del, NC_000019.10:g.47318898_47318904del, NC_000019.10:g.47318899_47318904del, NC_000019.10:g.47318900_47318904del, NC_000019.10:g.47318901_47318904del, NC_000019.10:g.47318902_47318904del, NC_000019.10:g.47318903_47318904del, NC_000019.10:g.47318904del, NC_000019.10:g.47318904dup, NC_000019.10:g.47318903_47318904dup, NC_000019.10:g.47318902_47318904dup, NC_000019.10:g.47318901_47318904dup, NC_000019.10:g.47318900_47318904dup, NC_000019.10:g.47318899_47318904dup, NC_000019.10:g.47318898_47318904dup, NC_000019.9:g.47822150_47822161del, NC_000019.9:g.47822151_47822161del, NC_000019.9:g.47822152_47822161del, NC_000019.9:g.47822155_47822161del, NC_000019.9:g.47822156_47822161del, NC_000019.9:g.47822157_47822161del, NC_000019.9:g.47822158_47822161del, NC_000019.9:g.47822159_47822161del, NC_000019.9:g.47822160_47822161del, NC_000019.9:g.47822161del, NC_000019.9:g.47822161dup, NC_000019.9:g.47822160_47822161dup, NC_000019.9:g.47822159_47822161dup, NC_000019.9:g.47822158_47822161dup, NC_000019.9:g.47822157_47822161dup, NC_000019.9:g.47822156_47822161dup, NC_000019.9:g.47822155_47822161dup

Select item 14909359093.

rs1490935909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47311511 (GRCh38)
19:47814768 (GRCh37)
Canonical SPDI:: NC_000019.10:47311510:C:A
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.47311511C>A, NC_000019.9:g.47814768C>A

Select item 14908844544.

rs1490884454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:47317233 (GRCh38)
19:47820490 (GRCh37)
Canonical SPDI:: NC_000019.10:47317232:G:A,NC_000019.10:47317232:G:C
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.47317233G>A, NC_000019.10:g.47317233G>C, NC_000019.9:g.47820490G>A, NC_000019.9:g.47820490G>C

Select item 14907867895.

rs1490786789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47309381 (GRCh38)
19:47812638 (GRCh37)
Canonical SPDI:: NC_000019.10:47309380:C:T
Gene:: C5AR1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47309381C>T, NC_000019.9:g.47812638C>T

Select item 14904585296.

rs1490458529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:47312482 (GRCh38)
19:47815739 (GRCh37)
Canonical SPDI:: NC_000019.10:47312481:G:C
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47312482G>C, NC_000019.9:g.47815739G>C

Select item 14904430587.

rs1490443058 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:47314525 (GRCh38)
19:47817783 (GRCh37)
Canonical SPDI:: NC_000019.10:47314525::G
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000065/9 (GnomAD)
HGVS:: NC_000019.10:g.47314525_47314526insG, NC_000019.9:g.47817782_47817783insG

Select item 14902972358.

rs1490297235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47309716 (GRCh38)
19:47812973 (GRCh37)
Canonical SPDI:: NC_000019.10:47309715:G:A
Gene:: C5AR1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.47309716G>A, NC_000019.9:g.47812973G>A

Select item 14894639389.

rs1489463938 has merged into rs1051683773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:47308224 (GRCh38)
19:47811481 (GRCh37)
Canonical SPDI:: NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:47308212:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.47308224_47308235del, NC_000019.10:g.47308225_47308235del, NC_000019.10:g.47308227_47308235del, NC_000019.10:g.47308229_47308235del, NC_000019.10:g.47308230_47308235del, NC_000019.10:g.47308231_47308235del, NC_000019.10:g.47308232_47308235del, NC_000019.10:g.47308233_47308235del, NC_000019.10:g.47308234_47308235del, NC_000019.10:g.47308235del, NC_000019.10:g.47308235dup, NC_000019.10:g.47308234_47308235dup, NC_000019.10:g.47308233_47308235dup, NC_000019.10:g.47308232_47308235dup, NC_000019.10:g.47308231_47308235dup, NC_000019.10:g.47308230_47308235dup, NC_000019.10:g.47308229_47308235dup, NC_000019.10:g.47308228_47308235dup, NC_000019.9:g.47811481_47811492del, NC_000019.9:g.47811482_47811492del, NC_000019.9:g.47811484_47811492del, NC_000019.9:g.47811486_47811492del, NC_000019.9:g.47811487_47811492del, NC_000019.9:g.47811488_47811492del, NC_000019.9:g.47811489_47811492del, NC_000019.9:g.47811490_47811492del, NC_000019.9:g.47811491_47811492del, NC_000019.9:g.47811492del, NC_000019.9:g.47811492dup, NC_000019.9:g.47811491_47811492dup, NC_000019.9:g.47811490_47811492dup, NC_000019.9:g.47811489_47811492dup, NC_000019.9:g.47811488_47811492dup, NC_000019.9:g.47811487_47811492dup, NC_000019.9:g.47811486_47811492dup, NC_000019.9:g.47811485_47811492dup

Select item 148946256710.

rs1489462567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:47322345 (GRCh38)
19:47825602 (GRCh37)
Canonical SPDI:: NC_000019.10:47322344:G:C
Gene:: C5AR1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47322345G>C, NC_000019.9:g.47825602G>C

Select item 148944818011.

rs1489448180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47320712 (GRCh38)
19:47823969 (GRCh37)
Canonical SPDI:: NC_000019.10:47320711:G:A
Gene:: C5AR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47320712G>A, NC_000019.9:g.47823969G>A, NM_001736.4:c.935G>A, NM_001736.3:c.935G>A, XM_047439300.1:c.1037G>A, NP_001727.2:p.Arg312Gln, XP_047295256.1:p.Arg346Gln

Select item 148912603412.

rs1489126034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47316372 (GRCh38)
19:47819629 (GRCh37)
Canonical SPDI:: NC_000019.10:47316371:T:C
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47316372T>C, NC_000019.9:g.47819629T>C

Select item 148910220613.

rs1489102206 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47314989 (GRCh38)
19:47818246 (GRCh37)
Canonical SPDI:: NC_000019.10:47314988:T:C
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_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_000019.10:g.47314989T>C, NC_000019.9:g.47818246T>C

Select item 148881322514.

rs1488813225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47312211 (GRCh38)
19:47815468 (GRCh37)
Canonical SPDI:: NC_000019.10:47312210:A:G
Gene:: C5AR1 (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_000019.10:g.47312211A>G, NC_000019.9:g.47815468A>G

Select item 148880520015.

rs1488805200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47310167 (GRCh38)
19:47813424 (GRCh37)
Canonical SPDI:: NC_000019.10:47310166:C:T
Gene:: C5AR1 (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)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.47310167C>T, NC_000019.9:g.47813424C>T

Select item 148873763916.

rs1488737639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47318275 (GRCh38)
19:47821532 (GRCh37)
Canonical SPDI:: NC_000019.10:47318274:C:T
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.47318275C>T, NC_000019.9:g.47821532C>T

Select item 148867745017.

rs1488677450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47318399 (GRCh38)
19:47821656 (GRCh37)
Canonical SPDI:: NC_000019.10:47318398:T:G
Gene:: C5AR1 (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_000019.10:g.47318399T>G, NC_000019.9:g.47821656T>G

Select item 148863141018.

rs1488631410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47315716 (GRCh38)
19:47818973 (GRCh37)
Canonical SPDI:: NC_000019.10:47315715:C:T
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47315716C>T, NC_000019.9:g.47818973C>T, NG_059300.1:g.445C>T

Select item 148861347619.

rs1488613476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47321348 (GRCh38)
19:47824605 (GRCh37)
Canonical SPDI:: NC_000019.10:47321347:C:G
Gene:: C5AR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.47321348C>G, NC_000019.9:g.47824605C>G, NM_001736.4:c.*518C>G, NM_001736.3:c.*518C>G, XM_047439300.1:c.*518C>G

Select item 148856205220.

rs1488562052 has merged into rs555304432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCCATCCATCCATCC>-,ATCC,ATCCATCC,ATCCATCCATCC,ATCCATCCATCCATCCATCC,ATCCATCCATCCATCCATCCATCC,ATCCATCCATCCATCCATCCATCCATCC [Show Flanks]
Chromosome:: 19:47315985 (GRCh38)
19:47819242 (GRCh37)
Canonical SPDI:: NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCCATCCATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCCATCCATCCATCCATCCATCC,NC_000019.10:47315971:CATCCATCCATCCATCCATCCATCCATCC:CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC
Gene:: C5AR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCCATCCATCCATCC=0./0 (ALFA)
CATC=0.00491/9 (Korea1K)
CATC=0.00699/35 (1000Genomes)
HGVS:: NC_000019.10:g.47315973ATCC[3], NC_000019.10:g.47315973ATCC[4], NC_000019.10:g.47315973ATCC[5], NC_000019.10:g.47315973ATCC[6], NC_000019.10:g.47315973ATCC[8], NC_000019.10:g.47315973ATCC[9], NC_000019.10:g.47315973ATCC[10], NC_000019.9:g.47819230ATCC[3], NC_000019.9:g.47819230ATCC[4], NC_000019.9:g.47819230ATCC[5], NC_000019.9:g.47819230ATCC[6], NC_000019.9:g.47819230ATCC[8], NC_000019.9:g.47819230ATCC[9], NC_000019.9:g.47819230ATCC[10]

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