SNP Links for Protein (Select 767998893) - SNP

Select item 14876281951.

rs1487628195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:32018915 (GRCh38)
18:29598878 (GRCh37)
Canonical SPDI:: NC_000018.10:32018914:A:T
Gene:: RNF125 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.32018915A>T, NC_000018.9:g.29598878A>T, NG_042056.1:g.5434A>T, NM_017831.4:c.52A>T, NM_017831.3:c.52A>T, XM_011526046.4:c.52A>T, XM_011526046.3:c.52A>T, XM_011526046.2:c.52A>T, XM_011526046.1:c.52A>T, XM_011526045.4:c.52A>T, XM_011526045.3:c.52A>T, XM_011526045.2:c.52A>T, XM_011526045.1:c.52A>T, XM_011526047.4:c.52A>T, XM_011526047.3:c.52A>T, XM_011526047.2:c.52A>T, XM_011526047.1:c.52A>T, XM_047437561.1:c.52A>T, NP_060301.2:p.Thr18Ser, XP_011524348.1:p.Thr18Ser, XP_011524347.1:p.Thr18Ser, XP_011524349.1:p.Thr18Ser, XP_047293517.1:p.Thr18Ser

Select item 14800007002.

rs1480000700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:32019007 (GRCh38)
18:29598970 (GRCh37)
Canonical SPDI:: NC_000018.10:32019006:C:G
Gene:: RNF125 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32019007C>G, NC_000018.9:g.29598970C>G, NG_042056.1:g.5526C>G, NM_017831.4:c.144C>G, NM_017831.3:c.144C>G, XM_011526046.4:c.144C>G, XM_011526046.3:c.144C>G, XM_011526046.2:c.144C>G, XM_011526046.1:c.144C>G, XM_011526045.4:c.144C>G, XM_011526045.3:c.144C>G, XM_011526045.2:c.144C>G, XM_011526045.1:c.144C>G, XM_011526047.4:c.144C>G, XM_011526047.3:c.144C>G, XM_011526047.2:c.144C>G, XM_011526047.1:c.144C>G, XM_047437561.1:c.144C>G

Select item 14791704103.

rs1479170410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:32042207 (GRCh38)
18:29622170 (GRCh37)
Canonical SPDI:: NC_000018.10:32042206:T:A
Gene:: RNF125 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32042207T>A, NC_000018.9:g.29622170T>A, NG_042056.1:g.28726T>A, NM_017831.4:c.347T>A, NM_017831.3:c.347T>A, XM_011526046.4:c.347T>A, XM_011526046.3:c.347T>A, XM_011526046.2:c.347T>A, XM_011526046.1:c.347T>A, XM_011526045.4:c.347T>A, XM_011526045.3:c.347T>A, XM_011526045.2:c.347T>A, XM_011526045.1:c.347T>A, XM_011526047.4:c.347T>A, XM_011526047.3:c.347T>A, XM_011526047.2:c.347T>A, XM_011526047.1:c.347T>A, XM_047437561.1:c.347T>A, NP_060301.2:p.Ile116Asn, XP_011524348.1:p.Ile116Asn, XP_011524347.1:p.Ile116Asn, XP_011524349.1:p.Ile116Asn, XP_047293517.1:p.Ile116Asn

Select item 14786354694.

rs1478635469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:32045729 (GRCh38)
18:29625692 (GRCh37)
Canonical SPDI:: NC_000018.10:32045728:T:C
Gene:: RNF125 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.32045729T>C, NC_000018.9:g.29625692T>C, NG_042056.1:g.32248T>C, NM_017831.4:c.501T>C, NM_017831.3:c.501T>C, XM_011526046.4:c.501T>C, XM_011526046.3:c.501T>C, XM_011526046.2:c.501T>C, XM_011526046.1:c.501T>C, XM_011526045.4:c.501T>C, XM_011526045.3:c.501T>C, XM_011526045.2:c.501T>C, XM_011526045.1:c.501T>C, XM_011526047.4:c.501T>C, XM_011526047.3:c.501T>C, XM_011526047.2:c.501T>C, XM_011526047.1:c.501T>C

Select item 14642808845.

rs1464280884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:32042189 (GRCh38)
18:29622152 (GRCh37)
Canonical SPDI:: NC_000018.10:32042188:G:T
Gene:: RNF125 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.32042189G>T, NC_000018.9:g.29622152G>T, NG_042056.1:g.28708G>T, NM_017831.4:c.329G>T, NM_017831.3:c.329G>T, XM_011526046.4:c.329G>T, XM_011526046.3:c.329G>T, XM_011526046.2:c.329G>T, XM_011526046.1:c.329G>T, XM_011526045.4:c.329G>T, XM_011526045.3:c.329G>T, XM_011526045.2:c.329G>T, XM_011526045.1:c.329G>T, XM_011526047.4:c.329G>T, XM_011526047.3:c.329G>T, XM_011526047.2:c.329G>T, XM_011526047.1:c.329G>T, XM_047437561.1:c.329G>T, NP_060301.2:p.Ser110Ile, XP_011524348.1:p.Ser110Ile, XP_011524347.1:p.Ser110Ile, XP_011524349.1:p.Ser110Ile, XP_047293517.1:p.Ser110Ile

Select item 14582009006.

rs1458200900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:32087955 (GRCh38)
18:29667918 (GRCh37)
Canonical SPDI:: NC_000018.10:32087954:C:T
Gene:: RNF125 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.32087955C>T, NC_000018.9:g.29667918C>T, NG_029944.1:g.1101C>T, XM_011526045.4:c.670C>T, XM_011526045.3:c.670C>T, XM_011526045.2:c.670C>T, XM_011526045.1:c.670C>T, XM_011526047.4:c.562C>T, XM_011526047.3:c.562C>T, XM_011526047.2:c.562C>T, XM_011526047.1:c.562C>T, XP_011524347.1:p.Gln224Ter, XP_011524349.1:p.Gln188Ter

Select item 14566236497.

rs1456623649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:32037242 (GRCh38)
18:29617205 (GRCh37)
Canonical SPDI:: NC_000018.10:32037239:TATA:TA
Gene:: RNF125 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.32037240TA[1], NC_000018.9:g.29617203TA[1], NG_042056.1:g.23759TA[1], NM_017831.4:c.291_292del, NM_017831.3:c.291_292del, XM_011526046.4:c.291_292del, XM_011526046.3:c.291_292del, XM_011526046.2:c.291_292del, XM_011526046.1:c.291_292del, XM_011526045.4:c.291_292del, XM_011526045.3:c.291_292del, XM_011526045.2:c.291_292del, XM_011526045.1:c.291_292del, XM_011526047.4:c.291_292del, XM_011526047.3:c.291_292del, XM_011526047.2:c.291_292del, XM_011526047.1:c.291_292del, XM_047437561.1:c.291_292del, NP_060301.2:p.Tyr97_Lys98delinsTer, XP_011524348.1:p.Tyr97_Lys98delinsTer, XP_011524347.1:p.Tyr97_Lys98delinsTer, XP_011524349.1:p.Tyr97_Lys98delinsTer, XP_047293517.1:p.Tyr97_Lys98delinsTer

Select item 14382855408.

rs1438285540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:32042248 (GRCh38)
18:29622211 (GRCh37)
Canonical SPDI:: NC_000018.10:32042247:C:A,NC_000018.10:32042247:C:T
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32042248C>A, NC_000018.10:g.32042248C>T, NC_000018.9:g.29622211C>A, NC_000018.9:g.29622211C>T, NG_042056.1:g.28767C>A, NG_042056.1:g.28767C>T, NM_017831.4:c.388C>A, NM_017831.4:c.388C>T, NM_017831.3:c.388C>A, NM_017831.3:c.388C>T, XM_011526046.4:c.388C>A, XM_011526046.4:c.388C>T, XM_011526046.3:c.388C>A, XM_011526046.3:c.388C>T, XM_011526046.2:c.388C>A, XM_011526046.2:c.388C>T, XM_011526046.1:c.388C>A, XM_011526046.1:c.388C>T, XM_011526045.4:c.388C>A, XM_011526045.4:c.388C>T, XM_011526045.3:c.388C>A, XM_011526045.3:c.388C>T, XM_011526045.2:c.388C>A, XM_011526045.2:c.388C>T, XM_011526045.1:c.388C>A, XM_011526045.1:c.388C>T, XM_011526047.4:c.388C>A, XM_011526047.4:c.388C>T, XM_011526047.3:c.388C>A, XM_011526047.3:c.388C>T, XM_011526047.2:c.388C>A, XM_011526047.2:c.388C>T, XM_011526047.1:c.388C>A, XM_011526047.1:c.388C>T, XM_047437561.1:c.388C>A, XM_047437561.1:c.388C>T, NP_060301.2:p.Gln130Lys, NP_060301.2:p.Gln130Ter, XP_011524348.1:p.Gln130Lys, XP_011524348.1:p.Gln130Ter, XP_011524347.1:p.Gln130Lys, XP_011524347.1:p.Gln130Ter, XP_011524349.1:p.Gln130Lys, XP_011524349.1:p.Gln130Ter, XP_047293517.1:p.Gln130Lys, XP_047293517.1:p.Gln130Ter

Select item 14317525859.

rs1431752585 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAGGTGTTACACCAGCCT>- [Show Flanks]
Chromosome:: 18:32018986 (GRCh38)
18:29598949 (GRCh37)
Canonical SPDI:: NC_000018.10:32018981:GCCTTGAGGTGTTACACCAGCCT:GCCT
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GCCT=0./0 (ALFA)
HGVS:: NC_000018.10:g.32018986_32019004del, NC_000018.9:g.29598949_29598967del, NG_042056.1:g.5505_5523del, NM_017831.4:c.123_141del, NM_017831.3:c.123_141del, XM_011526046.4:c.123_141del, XM_011526046.3:c.123_141del, XM_011526046.2:c.123_141del, XM_011526046.1:c.123_141del, XM_011526045.4:c.123_141del, XM_011526045.3:c.123_141del, XM_011526045.2:c.123_141del, XM_011526045.1:c.123_141del, XM_011526047.4:c.123_141del, XM_011526047.3:c.123_141del, XM_011526047.2:c.123_141del, XM_011526047.1:c.123_141del, XM_047437561.1:c.123_141del, NP_060301.2:p.Glu42fs, XP_011524348.1:p.Glu42fs, XP_011524347.1:p.Glu42fs, XP_011524349.1:p.Glu42fs, XP_047293517.1:p.Glu42fs

Select item 142915991710.

rs1429159917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:32018920 (GRCh38)
18:29598883 (GRCh37)
Canonical SPDI:: NC_000018.10:32018919:G:A
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.32018920G>A, NC_000018.9:g.29598883G>A, NG_042056.1:g.5439G>A, NM_017831.4:c.57G>A, NM_017831.3:c.57G>A, XM_011526046.4:c.57G>A, XM_011526046.3:c.57G>A, XM_011526046.2:c.57G>A, XM_011526046.1:c.57G>A, XM_011526045.4:c.57G>A, XM_011526045.3:c.57G>A, XM_011526045.2:c.57G>A, XM_011526045.1:c.57G>A, XM_011526047.4:c.57G>A, XM_011526047.3:c.57G>A, XM_011526047.2:c.57G>A, XM_011526047.1:c.57G>A, XM_047437561.1:c.57G>A

Select item 142881058911.

rs1428810589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:32018999 (GRCh38)
18:29598962 (GRCh37)
Canonical SPDI:: NC_000018.10:32018998:C:T
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.32018999C>T, NC_000018.9:g.29598962C>T, NG_042056.1:g.5518C>T, NM_017831.4:c.136C>T, NM_017831.3:c.136C>T, XM_011526046.4:c.136C>T, XM_011526046.3:c.136C>T, XM_011526046.2:c.136C>T, XM_011526046.1:c.136C>T, XM_011526045.4:c.136C>T, XM_011526045.3:c.136C>T, XM_011526045.2:c.136C>T, XM_011526045.1:c.136C>T, XM_011526047.4:c.136C>T, XM_011526047.3:c.136C>T, XM_011526047.2:c.136C>T, XM_011526047.1:c.136C>T, XM_047437561.1:c.136C>T, NP_060301.2:p.Gln46Ter, XP_011524348.1:p.Gln46Ter, XP_011524347.1:p.Gln46Ter, XP_011524349.1:p.Gln46Ter, XP_047293517.1:p.Gln46Ter

Select item 142755204012.

rs1427552040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:32037216 (GRCh38)
18:29617179 (GRCh37)
Canonical SPDI:: NC_000018.10:32037215:G:T
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.32037216G>T, NC_000018.9:g.29617179G>T, NG_042056.1:g.23735G>T, NM_017831.4:c.265G>T, NM_017831.3:c.265G>T, XM_011526046.4:c.265G>T, XM_011526046.3:c.265G>T, XM_011526046.2:c.265G>T, XM_011526046.1:c.265G>T, XM_011526045.4:c.265G>T, XM_011526045.3:c.265G>T, XM_011526045.2:c.265G>T, XM_011526045.1:c.265G>T, XM_011526047.4:c.265G>T, XM_011526047.3:c.265G>T, XM_011526047.2:c.265G>T, XM_011526047.1:c.265G>T, XM_047437561.1:c.265G>T, NP_060301.2:p.Val89Leu, XP_011524348.1:p.Val89Leu, XP_011524347.1:p.Val89Leu, XP_011524349.1:p.Val89Leu, XP_047293517.1:p.Val89Leu

Select item 142467261513.

rs1424672615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:32037137 (GRCh38)
18:29617100 (GRCh37)
Canonical SPDI:: NC_000018.10:32037136:T:C
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32037137T>C, NC_000018.9:g.29617100T>C, NG_042056.1:g.23656T>C, NM_017831.4:c.186T>C, NM_017831.3:c.186T>C, XM_011526046.4:c.186T>C, XM_011526046.3:c.186T>C, XM_011526046.2:c.186T>C, XM_011526046.1:c.186T>C, XM_011526045.4:c.186T>C, XM_011526045.3:c.186T>C, XM_011526045.2:c.186T>C, XM_011526045.1:c.186T>C, XM_011526047.4:c.186T>C, XM_011526047.3:c.186T>C, XM_011526047.2:c.186T>C, XM_011526047.1:c.186T>C, XM_047437561.1:c.186T>C

Select item 141909306914.

rs1419093069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:32018888 (GRCh38)
18:29598851 (GRCh37)
Canonical SPDI:: NC_000018.10:32018887:A:G
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.32018888A>G, NC_000018.9:g.29598851A>G, NG_042056.1:g.5407A>G, NM_017831.4:c.25A>G, NM_017831.3:c.25A>G, XM_011526046.4:c.25A>G, XM_011526046.3:c.25A>G, XM_011526046.2:c.25A>G, XM_011526046.1:c.25A>G, XM_011526045.4:c.25A>G, XM_011526045.3:c.25A>G, XM_011526045.2:c.25A>G, XM_011526045.1:c.25A>G, XM_011526047.4:c.25A>G, XM_011526047.3:c.25A>G, XM_011526047.2:c.25A>G, XM_011526047.1:c.25A>G, XM_047437561.1:c.25A>G, NP_060301.2:p.Ser9Gly, XP_011524348.1:p.Ser9Gly, XP_011524347.1:p.Ser9Gly, XP_011524349.1:p.Ser9Gly, XP_047293517.1:p.Ser9Gly

Select item 141554275715.

rs1415542757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:32037182 (GRCh38)
18:29617145 (GRCh37)
Canonical SPDI:: NC_000018.10:32037181:A:C,NC_000018.10:32037181:A:G
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.32037182A>C, NC_000018.10:g.32037182A>G, NC_000018.9:g.29617145A>C, NC_000018.9:g.29617145A>G, NG_042056.1:g.23701A>C, NG_042056.1:g.23701A>G, NM_017831.4:c.231A>C, NM_017831.4:c.231A>G, NM_017831.3:c.231A>C, NM_017831.3:c.231A>G, XM_011526046.4:c.231A>C, XM_011526046.4:c.231A>G, XM_011526046.3:c.231A>C, XM_011526046.3:c.231A>G, XM_011526046.2:c.231A>C, XM_011526046.2:c.231A>G, XM_011526046.1:c.231A>C, XM_011526046.1:c.231A>G, XM_011526045.4:c.231A>C, XM_011526045.4:c.231A>G, XM_011526045.3:c.231A>C, XM_011526045.3:c.231A>G, XM_011526045.2:c.231A>C, XM_011526045.2:c.231A>G, XM_011526045.1:c.231A>C, XM_011526045.1:c.231A>G, XM_011526047.4:c.231A>C, XM_011526047.4:c.231A>G, XM_011526047.3:c.231A>C, XM_011526047.3:c.231A>G, XM_011526047.2:c.231A>C, XM_011526047.2:c.231A>G, XM_011526047.1:c.231A>C, XM_011526047.1:c.231A>G, XM_047437561.1:c.231A>C, XM_047437561.1:c.231A>G

Select item 140365714916.

rs1403657149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:32018952 (GRCh38)
18:29598915 (GRCh37)
Canonical SPDI:: NC_000018.10:32018951:T:G
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.32018952T>G, NC_000018.9:g.29598915T>G, NG_042056.1:g.5471T>G, NM_017831.4:c.89T>G, NM_017831.3:c.89T>G, XM_011526046.4:c.89T>G, XM_011526046.3:c.89T>G, XM_011526046.2:c.89T>G, XM_011526046.1:c.89T>G, XM_011526045.4:c.89T>G, XM_011526045.3:c.89T>G, XM_011526045.2:c.89T>G, XM_011526045.1:c.89T>G, XM_011526047.4:c.89T>G, XM_011526047.3:c.89T>G, XM_011526047.2:c.89T>G, XM_011526047.1:c.89T>G, XM_047437561.1:c.89T>G, NP_060301.2:p.Leu30Trp, XP_011524348.1:p.Leu30Trp, XP_011524347.1:p.Leu30Trp, XP_011524349.1:p.Leu30Trp, XP_047293517.1:p.Leu30Trp

Select item 139920088617.

rs1399200886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:32037177 (GRCh38)
18:29617140 (GRCh37)
Canonical SPDI:: NC_000018.10:32037176:C:T
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.32037177C>T, NC_000018.9:g.29617140C>T, NG_042056.1:g.23696C>T, NM_017831.4:c.226C>T, NM_017831.3:c.226C>T, XM_011526046.4:c.226C>T, XM_011526046.3:c.226C>T, XM_011526046.2:c.226C>T, XM_011526046.1:c.226C>T, XM_011526045.4:c.226C>T, XM_011526045.3:c.226C>T, XM_011526045.2:c.226C>T, XM_011526045.1:c.226C>T, XM_011526047.4:c.226C>T, XM_011526047.3:c.226C>T, XM_011526047.2:c.226C>T, XM_011526047.1:c.226C>T, XM_047437561.1:c.226C>T, NP_060301.2:p.Arg76Trp, XP_011524348.1:p.Arg76Trp, XP_011524347.1:p.Arg76Trp, XP_011524349.1:p.Arg76Trp, XP_047293517.1:p.Arg76Trp

Select item 139741306818.

rs1397413068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:32018904 (GRCh38)
18:29598867 (GRCh37)
Canonical SPDI:: NC_000018.10:32018903:C:T
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32018904C>T, NC_000018.9:g.29598867C>T, NG_042056.1:g.5423C>T, NM_017831.4:c.41C>T, NM_017831.3:c.41C>T, XM_011526046.4:c.41C>T, XM_011526046.3:c.41C>T, XM_011526046.2:c.41C>T, XM_011526046.1:c.41C>T, XM_011526045.4:c.41C>T, XM_011526045.3:c.41C>T, XM_011526045.2:c.41C>T, XM_011526045.1:c.41C>T, XM_011526047.4:c.41C>T, XM_011526047.3:c.41C>T, XM_011526047.2:c.41C>T, XM_011526047.1:c.41C>T, XM_047437561.1:c.41C>T, NP_060301.2:p.Pro14Leu, XP_011524348.1:p.Pro14Leu, XP_011524347.1:p.Pro14Leu, XP_011524349.1:p.Pro14Leu, XP_047293517.1:p.Pro14Leu

Select item 138717627219.

rs1387176272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:32018892 (GRCh38)
18:29598855 (GRCh37)
Canonical SPDI:: NC_000018.10:32018891:G:A
Gene:: RNF125 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32018892G>A, NC_000018.9:g.29598855G>A, NG_042056.1:g.5411G>A, NM_017831.4:c.29G>A, NM_017831.3:c.29G>A, XM_011526046.4:c.29G>A, XM_011526046.3:c.29G>A, XM_011526046.2:c.29G>A, XM_011526046.1:c.29G>A, XM_011526045.4:c.29G>A, XM_011526045.3:c.29G>A, XM_011526045.2:c.29G>A, XM_011526045.1:c.29G>A, XM_011526047.4:c.29G>A, XM_011526047.3:c.29G>A, XM_011526047.2:c.29G>A, XM_011526047.1:c.29G>A, XM_047437561.1:c.29G>A, NP_060301.2:p.Gly10Asp, XP_011524348.1:p.Gly10Asp, XP_011524347.1:p.Gly10Asp, XP_011524349.1:p.Gly10Asp, XP_047293517.1:p.Gly10Asp

Select item 137624950220.

rs1376249502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:32037161 (GRCh38)
18:29617124 (GRCh37)
Canonical SPDI:: NC_000018.10:32037160:G:A
Gene:: RNF125 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.32037161G>A, NC_000018.9:g.29617124G>A, NG_042056.1:g.23680G>A, NM_017831.4:c.210G>A, NM_017831.3:c.210G>A, XM_011526046.4:c.210G>A, XM_011526046.3:c.210G>A, XM_011526046.2:c.210G>A, XM_011526046.1:c.210G>A, XM_011526045.4:c.210G>A, XM_011526045.3:c.210G>A, XM_011526045.2:c.210G>A, XM_011526045.1:c.210G>A, XM_011526047.4:c.210G>A, XM_011526047.3:c.210G>A, XM_011526047.2:c.210G>A, XM_011526047.1:c.210G>A, XM_047437561.1:c.210G>A, NP_060301.2:p.Trp70Ter, XP_011524348.1:p.Trp70Ter, XP_011524347.1:p.Trp70Ter, XP_011524349.1:p.Trp70Ter, XP_047293517.1:p.Trp70Ter

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