SNP Links for Gene (Select 100302137) - SNP

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Select item 14906645861.

rs1490664586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:63940995 (GRCh38)
20:62572348 (GRCh37)
Canonical SPDI:: NC_000020.11:63940994:C:A,NC_000020.11:63940994:C:G
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,terminator_codon_variant,synonymous_variant,500B_downstream_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63940995C>A, NC_000020.11:g.63940995C>G, NC_000020.10:g.62572348C>A, NC_000020.10:g.62572348C>G, NM_017859.4:c.1071G>T, NM_017859.4:c.1071G>C, NM_017859.3:c.1071G>T, NM_017859.3:c.1071G>C, XM_006723806.3:c.1101G>T, XM_006723806.3:c.1101G>C, XM_006723806.2:c.1101G>T, XM_006723806.2:c.1101G>C, XM_006723806.1:c.1101G>T, XM_006723806.1:c.1101G>C, XM_006723807.3:c.1098G>T, XM_006723807.3:c.1098G>C, XM_006723807.2:c.1098G>T, XM_006723807.2:c.1098G>C, XM_006723807.1:c.1098G>T, XM_006723807.1:c.1098G>C, XM_005260216.3:c.1095G>T, XM_005260216.3:c.1095G>C, XM_005260216.2:c.1095G>T, XM_005260216.2:c.1095G>C, XM_005260216.1:c.1095G>T, XM_005260216.1:c.1095G>C, NM_001353478.2:c.1026G>T, NM_001353478.2:c.1026G>C, NM_001353478.1:c.1026G>T, NM_001353478.1:c.1026G>C, NM_001193379.2:c.1026G>T, NM_001193379.2:c.1026G>C, NM_001193379.1:c.1026G>T, NM_001193379.1:c.1026G>C, NM_001353479.2:c.1023G>T, NM_001353479.2:c.1023G>C, NM_001353479.1:c.1023G>T, NM_001353479.1:c.1023G>C, NR_148434.2:n.1135G>T, NR_148434.2:n.1135G>C, NR_148434.1:n.1166G>T, NR_148434.1:n.1166G>C, NR_148439.2:n.1132G>T, NR_148439.2:n.1132G>C, NR_148439.1:n.1163G>T, NR_148439.1:n.1163G>C, NM_001353480.2:c.717G>T, NM_001353480.2:c.717G>C, NM_001353480.1:c.717G>T, NM_001353480.1:c.717G>C, XM_006723809.2:c.1077G>T, XM_006723809.2:c.1077G>C, XM_006723809.1:c.1077G>T, XM_006723809.1:c.1077G>C, NM_001353475.2:c.1074G>T, NM_001353475.2:c.1074G>C, NM_001353475.1:c.1074G>T, NM_001353475.1:c.1074G>C, NR_148436.2:n.1138G>T, NR_148436.2:n.1138G>C, NR_148436.1:n.1169G>T, NR_148436.1:n.1169G>C, NM_001353476.2:c.1071G>T, NM_001353476.2:c.1071G>C, NM_001353476.1:c.1071G>T, NM_001353476.1:c.1071G>C, NM_001353477.2:c.1068G>T, NM_001353477.2:c.1068G>C, NM_001353477.1:c.1068G>T, NM_001353477.1:c.1068G>C, NR_148435.2:n.1109G>T, NR_148435.2:n.1109G>C, NR_148435.1:n.1140G>T, NR_148435.1:n.1140G>C, NR_126526.2:n.1115G>T, NR_126526.2:n.1115G>C, NR_126526.1:n.1146G>T, NR_126526.1:n.1146G>C, NR_148442.2:n.1112G>T, NR_148442.2:n.1112G>C, NR_148442.1:n.1143G>T, NR_148442.1:n.1143G>C, NR_148441.2:n.1086G>T, NR_148441.2:n.1086G>C, NR_148441.1:n.1117G>T, NR_148441.1:n.1117G>C, NR_148437.2:n.1071G>T, NR_148437.2:n.1071G>C, NR_148437.1:n.1102G>T, NR_148437.1:n.1102G>C, NM_001353482.2:c.447G>T, NM_001353482.2:c.447G>C, NM_001353482.1:c.447G>T, NM_001353482.1:c.447G>C, NR_148440.2:n.1051G>T, NR_148440.2:n.1051G>C, NR_148440.1:n.1082G>T, NR_148440.1:n.1082G>C, NM_001353481.2:c.447G>T, NM_001353481.2:c.447G>C, NM_001353481.1:c.447G>T, NM_001353481.1:c.447G>C, NR_148438.2:n.1048G>T, NR_148438.2:n.1048G>C, NR_148438.1:n.1079G>T, NR_148438.1:n.1079G>C, XM_047440231.1:c.753G>T, XM_047440231.1:c.753G>C, XM_047440229.1:c.1056G>T, XM_047440229.1:c.1056G>C, XM_047440230.1:c.1053G>T, XM_047440230.1:c.1053G>C, XM_047440232.1:c.753G>T, XM_047440232.1:c.753G>C, XM_047440226.1:c.1098G>T, XM_047440226.1:c.1098G>C, XM_047440227.1:c.1095G>T, XM_047440227.1:c.1095G>C, XM_047440228.1:c.1074G>T, XM_047440228.1:c.1074G>C, XM_047440243.1:c.414G>T, XM_047440243.1:c.414G>C, XM_047440233.1:c.723G>T, XM_047440233.1:c.723G>C, XM_047440244.1:c.414G>T, XM_047440244.1:c.414G>C, XM_047440234.1:c.1120G>T, XM_047440234.1:c.1120G>C, XM_047440235.1:c.1078G>T, XM_047440235.1:c.1078G>C, XM_047440236.1:c.1075G>T, XM_047440236.1:c.1075G>C, XM_047440237.1:c.1069G>T, XM_047440237.1:c.1069G>C, XM_047440240.1:c.*98G>T, XM_047440240.1:c.*98G>C, XM_047440239.1:c.1052G>T, XM_047440239.1:c.1052G>C, XM_047440241.1:c.*72G>T, XM_047440241.1:c.*72G>C, XM_047440242.1:c.*72G>T, XM_047440242.1:c.*72G>C, XP_047296190.1:p.Asp374Tyr, XP_047296190.1:p.Asp374His, XP_047296191.1:p.Asp360Tyr, XP_047296191.1:p.Asp360His, XP_047296192.1:p.Asp359Tyr, XP_047296192.1:p.Asp359His, XP_047296193.1:p.Asp357Tyr, XP_047296193.1:p.Asp357His, XP_047296195.1:p.Ter351Leu, XP_047296195.1:p.Ter351Ser

Select item 14889758922.

rs1488975892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:63942692 (GRCh38)
20:62574045 (GRCh37)
Canonical SPDI:: NC_000020.11:63942691:A:C
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63942692A>C, NC_000020.10:g.62574045A>C, NR_030377.1:n.35T>G

Select item 14889468173.

rs1488946817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:63940979 (GRCh38)
20:62572332 (GRCh37)
Canonical SPDI:: NC_000020.11:63940978:C:A
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63940979C>A, NC_000020.10:g.62572332C>A, NM_017859.4:c.1087G>T, NM_017859.3:c.1087G>T, XM_006723806.3:c.1117G>T, XM_006723806.2:c.1117G>T, XM_006723806.1:c.1117G>T, XM_006723807.3:c.1114G>T, XM_006723807.2:c.1114G>T, XM_006723807.1:c.1114G>T, XM_005260216.3:c.1111G>T, XM_005260216.2:c.1111G>T, XM_005260216.1:c.1111G>T, NM_001353478.2:c.1042G>T, NM_001353478.1:c.1042G>T, NM_001193379.2:c.1042G>T, NM_001193379.1:c.1042G>T, NM_001353479.2:c.1039G>T, NM_001353479.1:c.1039G>T, NR_148434.2:n.1151G>T, NR_148434.1:n.1182G>T, NR_148439.2:n.1148G>T, NR_148439.1:n.1179G>T, NM_001353480.2:c.733G>T, NM_001353480.1:c.733G>T, XM_006723809.2:c.1093G>T, XM_006723809.1:c.1093G>T, NM_001353475.2:c.1090G>T, NM_001353475.1:c.1090G>T, NR_148436.2:n.1154G>T, NR_148436.1:n.1185G>T, NM_001353476.2:c.1087G>T, NM_001353476.1:c.1087G>T, NM_001353477.2:c.1084G>T, NM_001353477.1:c.1084G>T, NR_148435.2:n.1125G>T, NR_148435.1:n.1156G>T, NR_126526.2:n.1131G>T, NR_126526.1:n.1162G>T, NR_148442.2:n.1128G>T, NR_148442.1:n.1159G>T, NR_148441.2:n.1102G>T, NR_148441.1:n.1133G>T, NR_148437.2:n.1087G>T, NR_148437.1:n.1118G>T, NM_001353482.2:c.463G>T, NM_001353482.1:c.463G>T, NR_148440.2:n.1067G>T, NR_148440.1:n.1098G>T, NM_001353481.2:c.463G>T, NM_001353481.1:c.463G>T, NR_148438.2:n.1064G>T, NR_148438.1:n.1095G>T, XM_047440231.1:c.769G>T, XM_047440229.1:c.1072G>T, XM_047440230.1:c.1069G>T, XM_047440232.1:c.769G>T, XM_047440226.1:c.1114G>T, XM_047440227.1:c.1111G>T, XM_047440228.1:c.1090G>T, XM_047440243.1:c.430G>T, XM_047440233.1:c.739G>T, XM_047440244.1:c.430G>T, XM_047440234.1:c.1136G>T, XM_047440235.1:c.1094G>T, XM_047440236.1:c.1091G>T, XM_047440237.1:c.1085G>T, XM_047440240.1:c.*114G>T, XM_047440239.1:c.*15G>T, XM_047440241.1:c.*88G>T, XM_047440242.1:c.*88G>T, NP_060329.2:p.Glu363Ter, XP_006723869.1:p.Glu373Ter, XP_006723870.1:p.Glu372Ter, XP_005260273.1:p.Glu371Ter, NP_001340407.1:p.Glu348Ter, NP_001180308.1:p.Glu348Ter, NP_001340408.1:p.Glu347Ter, NP_001340409.1:p.Glu245Ter, XP_006723872.1:p.Glu365Ter, NP_001340404.1:p.Glu364Ter, NP_001340405.1:p.Glu363Ter, NP_001340406.1:p.Glu362Ter, NP_001340411.1:p.Glu155Ter, NP_001340410.1:p.Glu155Ter, XP_047296187.1:p.Glu257Ter, XP_047296185.1:p.Glu358Ter, XP_047296186.1:p.Glu357Ter, XP_047296188.1:p.Glu257Ter, XP_047296182.1:p.Glu372Ter, XP_047296183.1:p.Glu371Ter, XP_047296184.1:p.Glu364Ter, XP_047296199.1:p.Glu144Ter, XP_047296189.1:p.Glu247Ter, XP_047296200.1:p.Glu144Ter, XP_047296190.1:p.Arg379Leu, XP_047296191.1:p.Arg365Leu, XP_047296192.1:p.Arg364Leu, XP_047296193.1:p.Arg362Leu

Select item 14889089474.

rs1488908947 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:63943413 (GRCh38)
20:62574766 (GRCh37)
Canonical SPDI:: NC_000020.11:63943411:AAA:A
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63943413_63943414del, NC_000020.10:g.62574766_62574767del

Select item 14886184985.

rs1488618498 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:63941954 (GRCh38)
20:62573307 (GRCh37)
Canonical SPDI:: NC_000020.11:63941953:GG:G
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.63941955del, NC_000020.10:g.62573308del, XM_017027894.3:c.1486del, XM_017027894.2:c.1486del, XM_017027894.1:c.1486del, XR_007067459.1:n.1530del, XR_007067460.1:n.1527del, XR_007067461.1:n.1506del, XP_016883383.1:p.Arg496fs

Select item 14883982416.

rs1488398241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63942077 (GRCh38)
20:62573430 (GRCh37)
Canonical SPDI:: NC_000020.11:63942076:G:A
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00717/85 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00115/8 (TOMMO)
A=0.00463/1 (GnomAD)
A=0.06619/101 (KOREAN)
HGVS:: NC_000020.11:g.63942077G>A, NC_000020.10:g.62573430G>A, XM_017027894.3:c.1363C>T, XM_017027894.2:c.1363C>T, XM_017027894.1:c.1363C>T, XR_007067459.1:n.1407C>T, XR_007067460.1:n.1404C>T, XR_007067461.1:n.1383C>T, XP_016883383.1:p.Pro455Ser

Select item 14869439637.

rs1486943963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:63942678 (GRCh38)
20:62574031 (GRCh37)
Canonical SPDI:: NC_000020.11:63942677:G:A,NC_000020.11:63942677:G:T
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63942678G>A, NC_000020.11:g.63942678G>T, NC_000020.10:g.62574031G>A, NC_000020.10:g.62574031G>T, NR_030377.1:n.49C>T, NR_030377.1:n.49C>A

Select item 14869183958.

rs1486918395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63943175 (GRCh38)
20:62574528 (GRCh37)
Canonical SPDI:: NC_000020.11:63943174:G:A
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63943175G>A, NC_000020.10:g.62574528G>A

Select item 14863591929.

rs1486359192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:63942426 (GRCh38)
20:62573779 (GRCh37)
Canonical SPDI:: NC_000020.11:63942425:G:C
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63942426G>C, NC_000020.10:g.62573779G>C, XM_017027894.3:c.1014C>G, XM_017027894.2:c.1014C>G, XM_017027894.1:c.1014C>G, XR_007067459.1:n.1058C>G, XR_007067460.1:n.1055C>G, XR_007067461.1:n.1034C>G

Select item 148528083910.

rs1485280839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63943539 (GRCh38)
20:62574892 (GRCh37)
Canonical SPDI:: NC_000020.11:63943538:C:G
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.63943539C>G, NC_000020.10:g.62574892C>G

Select item 148423669111.

rs1484236691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63942402 (GRCh38)
20:62573755 (GRCh37)
Canonical SPDI:: NC_000020.11:63942401:G:A
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.63942402G>A, NC_000020.10:g.62573755G>A, XM_017027894.3:c.1038C>T, XM_017027894.2:c.1038C>T, XM_017027894.1:c.1038C>T, XR_007067459.1:n.1082C>T, XR_007067460.1:n.1079C>T, XR_007067461.1:n.1058C>T

Select item 148274894212.

rs1482748942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:63941566 (GRCh38)
20:62572919 (GRCh37)
Canonical SPDI:: NC_000020.11:63941565:A:C
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63941566A>C, NC_000020.10:g.62572919A>C, XM_017027894.3:c.*197T>G, XM_017027894.2:c.*197T>G, XM_017027894.1:c.*197T>G, XR_007067459.1:n.1918T>G, XR_007067460.1:n.1915T>G, XR_007067461.1:n.1894T>G

Select item 148241423013.

rs1482414230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63941425 (GRCh38)
20:62572778 (GRCh37)
Canonical SPDI:: NC_000020.11:63941424:G:A
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63941425G>A, NC_000020.10:g.62572778G>A, XM_017027894.3:c.*338C>T, XM_017027894.2:c.*338C>T, XM_017027894.1:c.*338C>T, XR_007067459.1:n.2059C>T, XR_007067460.1:n.2056C>T, XR_007067461.1:n.2035C>T

Select item 148236266814.

rs1482362668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:63941992 (GRCh38)
20:62573345 (GRCh37)
Canonical SPDI:: NC_000020.11:63941991:C:A,NC_000020.11:63941991:C:G,NC_000020.11:63941991:C:T
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63941992C>A, NC_000020.11:g.63941992C>G, NC_000020.11:g.63941992C>T, NC_000020.10:g.62573345C>A, NC_000020.10:g.62573345C>G, NC_000020.10:g.62573345C>T, XM_017027894.3:c.1448G>T, XM_017027894.3:c.1448G>C, XM_017027894.3:c.1448G>A, XM_017027894.2:c.1448G>T, XM_017027894.2:c.1448G>C, XM_017027894.2:c.1448G>A, XM_017027894.1:c.1448G>T, XM_017027894.1:c.1448G>C, XM_017027894.1:c.1448G>A, XR_007067459.1:n.1492G>T, XR_007067459.1:n.1492G>C, XR_007067459.1:n.1492G>A, XR_007067460.1:n.1489G>T, XR_007067460.1:n.1489G>C, XR_007067460.1:n.1489G>A, XR_007067461.1:n.1468G>T, XR_007067461.1:n.1468G>C, XR_007067461.1:n.1468G>A, XP_016883383.1:p.Arg483Leu, XP_016883383.1:p.Arg483Pro, XP_016883383.1:p.Arg483His

Select item 148048027215.

rs1480480272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63941062 (GRCh38)
20:62572415 (GRCh37)
Canonical SPDI:: NC_000020.11:63941061:A:G
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/6 (GnomAD_exomes)
G=0.000071/10 (GnomAD)
G=0.000083/22 (TOPMED)
HGVS:: NC_000020.11:g.63941062A>G, NC_000020.10:g.62572415A>G, XM_047440234.1:c.1053T>C

Select item 147896023016.

rs1478960230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63942786 (GRCh38)
20:62574139 (GRCh37)
Canonical SPDI:: NC_000020.11:63942785:A:G
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.63942786A>G, NC_000020.10:g.62574139A>G

Select item 147880415417.

rs1478804154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63941268 (GRCh38)
20:62572621 (GRCh37)
Canonical SPDI:: NC_000020.11:63941267:C:T
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63941268C>T, NC_000020.10:g.62572621C>T, XM_017027894.3:c.*495G>A, XM_017027894.2:c.*495G>A, XM_017027894.1:c.*495G>A, XR_007067459.1:n.2216G>A, XR_007067460.1:n.2213G>A, XR_007067461.1:n.2192G>A

Select item 147861729218.

rs1478617292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63941676 (GRCh38)
20:62573029 (GRCh37)
Canonical SPDI:: NC_000020.11:63941675:G:A
Gene:: UCKL1 (Varview), MIR1914 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63941676G>A, NC_000020.10:g.62573029G>A, XM_017027894.3:c.*87C>T, XM_017027894.2:c.*87C>T, XM_017027894.1:c.*87C>T, XR_007067459.1:n.1808C>T, XR_007067460.1:n.1805C>T, XR_007067461.1:n.1784C>T

Select item 147791747319.

rs1477917473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63943221 (GRCh38)
20:62574574 (GRCh37)
Canonical SPDI:: NC_000020.11:63943220:C:T
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.63943221C>T, NC_000020.10:g.62574574C>T

Select item 147489883120.

rs1474898831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63943133 (GRCh38)
20:62574486 (GRCh37)
Canonical SPDI:: NC_000020.11:63943132:C:T
Gene:: UCKL1 (Varview), MIR647 (Varview), MIR1914 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_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_000020.11:g.63943133C>T, NC_000020.10:g.62574486C>T

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