SNP Links for Protein (Select 1021312286) - SNP

Links from Protein

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Select item 14873409671.

rs1487340967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:38904373 (GRCh38)
5:38904475 (GRCh37)
Canonical SPDI:: NC_000005.10:38904372:G:T
Gene:: OSMR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.38904373G>T, NC_000005.9:g.38904475G>T, NG_016236.1:g.63516G>T, NM_003999.3:c.1155G>T, NM_003999.2:c.1155G>T, NM_001323506.2:c.1158G>T, NM_001323506.1:c.1158G>T, NM_001323505.2:c.1155G>T, NM_001323505.1:c.1155G>T, NM_001323507.2:c.1155G>T, NM_001323507.1:c.1155G>T, XM_011514161.3:c.1158G>T, XM_011514161.2:c.1158G>T, XM_011514161.1:c.1158G>T, XM_005248386.3:c.1158G>T, XM_005248386.2:c.1158G>T, XM_005248386.1:c.1158G>T, XM_005248387.3:c.1155G>T, XM_005248387.2:c.1155G>T, XM_005248387.1:c.1155G>T, XM_017010019.2:c.1155G>T, XM_017010019.1:c.1155G>T, XM_005248384.1:c.1158G>T, XM_047417870.1:c.1158G>T, XM_047417871.1:c.1155G>T, XM_047417872.1:c.1155G>T, XR_925661.1:n.1547G>T, XR_007058659.1:n.1544G>T, XR_007058660.1:n.1283G>T, XM_047417873.1:c.1158G>T

Select item 14867054342.

rs1486705434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:38919039 (GRCh38)
5:38919141 (GRCh37)
Canonical SPDI:: NC_000005.10:38919038:T:C
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000005.10:g.38919039T>C, NC_000005.9:g.38919141T>C, NG_016236.1:g.78182T>C, NM_003999.3:c.1562T>C, NM_003999.2:c.1562T>C, NM_001323506.2:c.1565T>C, NM_001323506.1:c.1565T>C, NM_001323505.2:c.1562T>C, NM_001323505.1:c.1562T>C, NM_001323507.2:c.1562T>C, NM_001323507.1:c.1562T>C, XM_011514161.3:c.1565T>C, XM_011514161.2:c.1565T>C, XM_011514161.1:c.1565T>C, XM_005248386.3:c.1565T>C, XM_005248386.2:c.1565T>C, XM_005248386.1:c.1565T>C, XM_005248387.3:c.1562T>C, XM_005248387.2:c.1562T>C, XM_005248387.1:c.1562T>C, XM_017010019.2:c.1562T>C, XM_017010019.1:c.1562T>C, XM_005248384.1:c.1565T>C, XM_047417870.1:c.1565T>C, XM_047417871.1:c.1562T>C, XM_047417872.1:c.1562T>C, XR_925661.1:n.1954T>C, XR_007058659.1:n.1951T>C, XR_007058660.1:n.1690T>C, XM_047417873.1:c.1565T>C, NP_003990.1:p.Val521Ala, NP_001310435.1:p.Val522Ala, NP_001310434.1:p.Val521Ala, NP_001310436.1:p.Val521Ala, XP_011512463.1:p.Val522Ala, XP_005248443.1:p.Val522Ala, XP_005248444.1:p.Val521Ala, XP_016865508.1:p.Val521Ala, XP_005248441.1:p.Val522Ala, XP_047273826.1:p.Val522Ala, XP_047273827.1:p.Val521Ala, XP_047273828.1:p.Val521Ala, XP_047273829.1:p.Val522Ala

Select item 14865685313.

rs1486568531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:38885409 (GRCh38)
5:38885511 (GRCh37)
Canonical SPDI:: NC_000005.10:38885408:G:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.38885409G>T, NC_000005.9:g.38885511G>T, NG_016236.1:g.44552G>T, NM_003999.3:c.764G>T, NM_003999.2:c.764G>T, NM_001168355.3:c.764G>T, NM_001168355.2:c.764G>T, NM_001168355.1:c.764G>T, NM_001323506.2:c.764G>T, NM_001323506.1:c.764G>T, NM_001323505.2:c.764G>T, NM_001323505.1:c.764G>T, NM_001323507.2:c.764G>T, NM_001323507.1:c.764G>T, NM_001323504.2:c.764G>T, NM_001323504.1:c.764G>T, XM_011514161.3:c.764G>T, XM_011514161.2:c.764G>T, XM_011514161.1:c.764G>T, XM_005248386.3:c.764G>T, XM_005248386.2:c.764G>T, XM_005248386.1:c.764G>T, XM_005248387.3:c.764G>T, XM_005248387.2:c.764G>T, XM_005248387.1:c.764G>T, XM_017010019.2:c.764G>T, XM_017010019.1:c.764G>T, XM_005248384.1:c.764G>T, XM_047417870.1:c.764G>T, XM_047417871.1:c.764G>T, XM_047417872.1:c.764G>T, XR_925661.1:n.1153G>T, XR_007058659.1:n.1153G>T, XR_007058660.1:n.892G>T, XM_047417873.1:c.764G>T, NP_003990.1:p.Cys255Phe, NP_001161827.1:p.Cys255Phe, NP_001310435.1:p.Cys255Phe, NP_001310434.1:p.Cys255Phe, NP_001310436.1:p.Cys255Phe, NP_001310433.1:p.Cys255Phe, XP_011512463.1:p.Cys255Phe, XP_005248443.1:p.Cys255Phe, XP_005248444.1:p.Cys255Phe, XP_016865508.1:p.Cys255Phe, XP_005248441.1:p.Cys255Phe, XP_047273826.1:p.Cys255Phe, XP_047273827.1:p.Cys255Phe, XP_047273828.1:p.Cys255Phe, XP_047273829.1:p.Cys255Phe

Select item 14843267134.

rs1484326713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:38919264 (GRCh38)
5:38919366 (GRCh37)
Canonical SPDI:: NC_000005.10:38919263:G:A
Gene:: OSMR (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00039/7 (TOMMO)
HGVS:: NC_000005.10:g.38919264G>A, NC_000005.9:g.38919366G>A, NG_016236.1:g.78407G>A, NM_001323507.2:c.1643G>A, NM_001323507.1:c.1643G>A, XM_005248386.3:c.1646G>A, XM_005248386.2:c.1646G>A, XM_005248386.1:c.1646G>A, XM_005248387.3:c.1643G>A, XM_005248387.2:c.1643G>A, XM_005248387.1:c.1643G>A, XM_047417873.1:c.1646G>A, NP_001310436.1:p.Ser548Asn, XP_005248443.1:p.Ser549Asn, XP_005248444.1:p.Ser548Asn, XP_047273829.1:p.Ser549Asn

Select item 14835293825.

rs1483529382 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:38918929 (GRCh38)
5:38919031 (GRCh37)
Canonical SPDI:: NC_000005.10:38918928:TT:T
Gene:: OSMR (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.38918930del, NC_000005.9:g.38919032del, NG_016236.1:g.78073del, NM_003999.3:c.1453del, NM_003999.2:c.1453del, NM_001323506.2:c.1456del, NM_001323506.1:c.1456del, NM_001323505.2:c.1453del, NM_001323505.1:c.1453del, NM_001323507.2:c.1453del, NM_001323507.1:c.1453del, XM_011514161.3:c.1456del, XM_011514161.2:c.1456del, XM_011514161.1:c.1456del, XM_005248386.3:c.1456del, XM_005248386.2:c.1456del, XM_005248386.1:c.1456del, XM_005248387.3:c.1453del, XM_005248387.2:c.1453del, XM_005248387.1:c.1453del, XM_017010019.2:c.1453del, XM_017010019.1:c.1453del, XM_005248384.1:c.1456del, XM_047417870.1:c.1456del, XM_047417871.1:c.1453del, XM_047417872.1:c.1453del, XR_925661.1:n.1845del, XR_007058659.1:n.1842del, XR_007058660.1:n.1581del, XM_047417873.1:c.1456del, NP_003990.1:p.Ser485fs, NP_001310435.1:p.Ser486fs, NP_001310434.1:p.Ser485fs, NP_001310436.1:p.Ser485fs, XP_011512463.1:p.Ser486fs, XP_005248443.1:p.Ser486fs, XP_005248444.1:p.Ser485fs, XP_016865508.1:p.Ser485fs, XP_005248441.1:p.Ser486fs, XP_047273826.1:p.Ser486fs, XP_047273827.1:p.Ser485fs, XP_047273828.1:p.Ser485fs, XP_047273829.1:p.Ser486fs

Select item 14819691686.

rs1481969168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:38876293 (GRCh38)
5:38876395 (GRCh37)
Canonical SPDI:: NC_000005.10:38876292:A:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38876293A>T, NC_000005.9:g.38876395A>T, NG_016236.1:g.35436A>T, NM_003999.3:c.166A>T, NM_003999.2:c.166A>T, NM_001168355.3:c.166A>T, NM_001168355.2:c.166A>T, NM_001168355.1:c.166A>T, NM_001323506.2:c.166A>T, NM_001323506.1:c.166A>T, NM_001323505.2:c.166A>T, NM_001323505.1:c.166A>T, NM_001323507.2:c.166A>T, NM_001323507.1:c.166A>T, NM_001323504.2:c.166A>T, NM_001323504.1:c.166A>T, XM_011514161.3:c.166A>T, XM_011514161.2:c.166A>T, XM_011514161.1:c.166A>T, XM_005248386.3:c.166A>T, XM_005248386.2:c.166A>T, XM_005248386.1:c.166A>T, XM_005248387.3:c.166A>T, XM_005248387.2:c.166A>T, XM_005248387.1:c.166A>T, XM_017010019.2:c.166A>T, XM_017010019.1:c.166A>T, XM_005248384.1:c.166A>T, XM_047417870.1:c.166A>T, XM_047417871.1:c.166A>T, XM_047417872.1:c.166A>T, XR_925661.1:n.555A>T, XR_007058659.1:n.555A>T, XR_007058660.1:n.294A>T, XM_047417873.1:c.166A>T, NP_003990.1:p.Asn56Tyr, NP_001161827.1:p.Asn56Tyr, NP_001310435.1:p.Asn56Tyr, NP_001310434.1:p.Asn56Tyr, NP_001310436.1:p.Asn56Tyr, NP_001310433.1:p.Asn56Tyr, XP_011512463.1:p.Asn56Tyr, XP_005248443.1:p.Asn56Tyr, XP_005248444.1:p.Asn56Tyr, XP_016865508.1:p.Asn56Tyr, XP_005248441.1:p.Asn56Tyr, XP_047273826.1:p.Asn56Tyr, XP_047273827.1:p.Asn56Tyr, XP_047273828.1:p.Asn56Tyr, XP_047273829.1:p.Asn56Tyr

Select item 14804175517.

rs1480417551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:38904447 (GRCh38)
5:38904549 (GRCh37)
Canonical SPDI:: NC_000005.10:38904446:G:A
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38904447G>A, NC_000005.9:g.38904549G>A, NG_016236.1:g.63590G>A, NM_003999.3:c.1229G>A, NM_003999.2:c.1229G>A, NM_001323506.2:c.1232G>A, NM_001323506.1:c.1232G>A, NM_001323505.2:c.1229G>A, NM_001323505.1:c.1229G>A, NM_001323507.2:c.1229G>A, NM_001323507.1:c.1229G>A, XM_011514161.3:c.1232G>A, XM_011514161.2:c.1232G>A, XM_011514161.1:c.1232G>A, XM_005248386.3:c.1232G>A, XM_005248386.2:c.1232G>A, XM_005248386.1:c.1232G>A, XM_005248387.3:c.1229G>A, XM_005248387.2:c.1229G>A, XM_005248387.1:c.1229G>A, XM_017010019.2:c.1229G>A, XM_017010019.1:c.1229G>A, XM_005248384.1:c.1232G>A, XM_047417870.1:c.1232G>A, XM_047417871.1:c.1229G>A, XM_047417872.1:c.1229G>A, XR_925661.1:n.1621G>A, XR_007058659.1:n.1618G>A, XR_007058660.1:n.1357G>A, XM_047417873.1:c.1232G>A, NP_003990.1:p.Ser410Asn, NP_001310435.1:p.Ser411Asn, NP_001310434.1:p.Ser410Asn, NP_001310436.1:p.Ser410Asn, XP_011512463.1:p.Ser411Asn, XP_005248443.1:p.Ser411Asn, XP_005248444.1:p.Ser410Asn, XP_016865508.1:p.Ser410Asn, XP_005248441.1:p.Ser411Asn, XP_047273826.1:p.Ser411Asn, XP_047273827.1:p.Ser410Asn, XP_047273828.1:p.Ser410Asn, XP_047273829.1:p.Ser411Asn

Select item 14801658078.

rs1480165807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:38885445 (GRCh38)
5:38885547 (GRCh37)
Canonical SPDI:: NC_000005.10:38885444:G:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.38885445G>T, NC_000005.9:g.38885547G>T, NG_016236.1:g.44588G>T, NM_003999.3:c.800G>T, NM_003999.2:c.800G>T, NM_001168355.3:c.800G>T, NM_001168355.2:c.800G>T, NM_001168355.1:c.800G>T, NM_001323506.2:c.800G>T, NM_001323506.1:c.800G>T, NM_001323505.2:c.800G>T, NM_001323505.1:c.800G>T, NM_001323507.2:c.800G>T, NM_001323507.1:c.800G>T, NM_001323504.2:c.800G>T, NM_001323504.1:c.800G>T, XM_011514161.3:c.800G>T, XM_011514161.2:c.800G>T, XM_011514161.1:c.800G>T, XM_005248386.3:c.800G>T, XM_005248386.2:c.800G>T, XM_005248386.1:c.800G>T, XM_005248387.3:c.800G>T, XM_005248387.2:c.800G>T, XM_005248387.1:c.800G>T, XM_017010019.2:c.800G>T, XM_017010019.1:c.800G>T, XM_005248384.1:c.800G>T, XM_047417870.1:c.800G>T, XM_047417871.1:c.800G>T, XM_047417872.1:c.800G>T, XR_925661.1:n.1189G>T, XR_007058659.1:n.1189G>T, XR_007058660.1:n.928G>T, XM_047417873.1:c.800G>T, NP_003990.1:p.Trp267Leu, NP_001161827.1:p.Trp267Leu, NP_001310435.1:p.Trp267Leu, NP_001310434.1:p.Trp267Leu, NP_001310436.1:p.Trp267Leu, NP_001310433.1:p.Trp267Leu, XP_011512463.1:p.Trp267Leu, XP_005248443.1:p.Trp267Leu, XP_005248444.1:p.Trp267Leu, XP_016865508.1:p.Trp267Leu, XP_005248441.1:p.Trp267Leu, XP_047273826.1:p.Trp267Leu, XP_047273827.1:p.Trp267Leu, XP_047273828.1:p.Trp267Leu, XP_047273829.1:p.Trp267Leu

Select item 14768676359.

rs1476867635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:38881614 (GRCh38)
5:38881716 (GRCh37)
Canonical SPDI:: NC_000005.10:38881613:A:C
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38881614A>C, NC_000005.9:g.38881716A>C, NG_016236.1:g.40757A>C, NM_003999.3:c.268A>C, NM_003999.2:c.268A>C, NM_001168355.3:c.268A>C, NM_001168355.2:c.268A>C, NM_001168355.1:c.268A>C, NM_001323506.2:c.268A>C, NM_001323506.1:c.268A>C, NM_001323505.2:c.268A>C, NM_001323505.1:c.268A>C, NM_001323507.2:c.268A>C, NM_001323507.1:c.268A>C, NM_001323504.2:c.268A>C, NM_001323504.1:c.268A>C, XM_011514161.3:c.268A>C, XM_011514161.2:c.268A>C, XM_011514161.1:c.268A>C, XM_005248386.3:c.268A>C, XM_005248386.2:c.268A>C, XM_005248386.1:c.268A>C, XM_005248387.3:c.268A>C, XM_005248387.2:c.268A>C, XM_005248387.1:c.268A>C, XM_017010019.2:c.268A>C, XM_017010019.1:c.268A>C, XM_005248384.1:c.268A>C, XM_047417870.1:c.268A>C, XM_047417871.1:c.268A>C, XM_047417872.1:c.268A>C, XR_925661.1:n.657A>C, XR_007058659.1:n.657A>C, XR_007058660.1:n.396A>C, XM_047417873.1:c.268A>C, NP_003990.1:p.Lys90Gln, NP_001161827.1:p.Lys90Gln, NP_001310435.1:p.Lys90Gln, NP_001310434.1:p.Lys90Gln, NP_001310436.1:p.Lys90Gln, NP_001310433.1:p.Lys90Gln, XP_011512463.1:p.Lys90Gln, XP_005248443.1:p.Lys90Gln, XP_005248444.1:p.Lys90Gln, XP_016865508.1:p.Lys90Gln, XP_005248441.1:p.Lys90Gln, XP_047273826.1:p.Lys90Gln, XP_047273827.1:p.Lys90Gln, XP_047273828.1:p.Lys90Gln, XP_047273829.1:p.Lys90Gln

Select item 147672148610.

rs1476721486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:38903922 (GRCh38)
5:38904024 (GRCh37)
Canonical SPDI:: NC_000005.10:38903921:A:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.38903922A>T, NC_000005.9:g.38904024A>T, NG_016236.1:g.63065A>T, NM_003999.3:c.1032A>T, NM_003999.2:c.1032A>T, NM_001323506.2:c.1032A>T, NM_001323506.1:c.1032A>T, NM_001323505.2:c.1032A>T, NM_001323505.1:c.1032A>T, NM_001323507.2:c.1032A>T, NM_001323507.1:c.1032A>T, XM_011514161.3:c.1032A>T, XM_011514161.2:c.1032A>T, XM_011514161.1:c.1032A>T, XM_005248386.3:c.1032A>T, XM_005248386.2:c.1032A>T, XM_005248386.1:c.1032A>T, XM_005248387.3:c.1032A>T, XM_005248387.2:c.1032A>T, XM_005248387.1:c.1032A>T, XM_017010019.2:c.1032A>T, XM_017010019.1:c.1032A>T, XM_005248384.1:c.1032A>T, XM_047417870.1:c.1032A>T, XM_047417871.1:c.1032A>T, XM_047417872.1:c.1032A>T, XR_925661.1:n.1421A>T, XR_007058659.1:n.1421A>T, XR_007058660.1:n.1160A>T, XM_047417873.1:c.1032A>T

Select item 147670670811.

rs1476706708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:38881721 (GRCh38)
5:38881823 (GRCh37)
Canonical SPDI:: NC_000005.10:38881720:G:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38881721G>T, NC_000005.9:g.38881823G>T, NG_016236.1:g.40864G>T, NM_003999.3:c.375G>T, NM_003999.2:c.375G>T, NM_001168355.3:c.375G>T, NM_001168355.2:c.375G>T, NM_001168355.1:c.375G>T, NM_001323506.2:c.375G>T, NM_001323506.1:c.375G>T, NM_001323505.2:c.375G>T, NM_001323505.1:c.375G>T, NM_001323507.2:c.375G>T, NM_001323507.1:c.375G>T, NM_001323504.2:c.375G>T, NM_001323504.1:c.375G>T, XM_011514161.3:c.375G>T, XM_011514161.2:c.375G>T, XM_011514161.1:c.375G>T, XM_005248386.3:c.375G>T, XM_005248386.2:c.375G>T, XM_005248386.1:c.375G>T, XM_005248387.3:c.375G>T, XM_005248387.2:c.375G>T, XM_005248387.1:c.375G>T, XM_017010019.2:c.375G>T, XM_017010019.1:c.375G>T, XM_005248384.1:c.375G>T, XM_047417870.1:c.375G>T, XM_047417871.1:c.375G>T, XM_047417872.1:c.375G>T, XR_925661.1:n.764G>T, XR_007058659.1:n.764G>T, XR_007058660.1:n.503G>T, XM_047417873.1:c.375G>T, NP_003990.1:p.Glu125Asp, NP_001161827.1:p.Glu125Asp, NP_001310435.1:p.Glu125Asp, NP_001310434.1:p.Glu125Asp, NP_001310436.1:p.Glu125Asp, NP_001310433.1:p.Glu125Asp, XP_011512463.1:p.Glu125Asp, XP_005248443.1:p.Glu125Asp, XP_005248444.1:p.Glu125Asp, XP_016865508.1:p.Glu125Asp, XP_005248441.1:p.Glu125Asp, XP_047273826.1:p.Glu125Asp, XP_047273827.1:p.Glu125Asp, XP_047273828.1:p.Glu125Asp, XP_047273829.1:p.Glu125Asp

Select item 147644136912.

rs1476441369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:38876223 (GRCh38)
5:38876325 (GRCh37)
Canonical SPDI:: NC_000005.10:38876222:G:A
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000005.10:g.38876223G>A, NC_000005.9:g.38876325G>A, NG_016236.1:g.35366G>A, NM_003999.3:c.96G>A, NM_003999.2:c.96G>A, NM_001168355.3:c.96G>A, NM_001168355.2:c.96G>A, NM_001168355.1:c.96G>A, NM_001323506.2:c.96G>A, NM_001323506.1:c.96G>A, NM_001323505.2:c.96G>A, NM_001323505.1:c.96G>A, NM_001323507.2:c.96G>A, NM_001323507.1:c.96G>A, NM_001323504.2:c.96G>A, NM_001323504.1:c.96G>A, XM_011514161.3:c.96G>A, XM_011514161.2:c.96G>A, XM_011514161.1:c.96G>A, XM_005248386.3:c.96G>A, XM_005248386.2:c.96G>A, XM_005248386.1:c.96G>A, XM_005248387.3:c.96G>A, XM_005248387.2:c.96G>A, XM_005248387.1:c.96G>A, XM_017010019.2:c.96G>A, XM_017010019.1:c.96G>A, XM_005248384.1:c.96G>A, XM_047417870.1:c.96G>A, XM_047417871.1:c.96G>A, XM_047417872.1:c.96G>A, XR_925661.1:n.485G>A, XR_007058659.1:n.485G>A, XR_007058660.1:n.224G>A, XM_047417873.1:c.96G>A

Select item 147508520213.

rs1475085202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:38917550 (GRCh38)
5:38917652 (GRCh37)
Canonical SPDI:: NC_000005.10:38917549:C:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.38917550C>T, NC_000005.9:g.38917652C>T, NG_016236.1:g.76693C>T, NM_003999.3:c.1290C>T, NM_003999.2:c.1290C>T, NM_001323506.2:c.1293C>T, NM_001323506.1:c.1293C>T, NM_001323505.2:c.1290C>T, NM_001323505.1:c.1290C>T, NM_001323507.2:c.1290C>T, NM_001323507.1:c.1290C>T, XM_011514161.3:c.1293C>T, XM_011514161.2:c.1293C>T, XM_011514161.1:c.1293C>T, XM_005248386.3:c.1293C>T, XM_005248386.2:c.1293C>T, XM_005248386.1:c.1293C>T, XM_005248387.3:c.1290C>T, XM_005248387.2:c.1290C>T, XM_005248387.1:c.1290C>T, XM_017010019.2:c.1290C>T, XM_017010019.1:c.1290C>T, XM_005248384.1:c.1293C>T, XM_047417870.1:c.1293C>T, XM_047417871.1:c.1290C>T, XM_047417872.1:c.1290C>T, XR_925661.1:n.1682C>T, XR_007058659.1:n.1679C>T, XR_007058660.1:n.1418C>T, XM_047417873.1:c.1293C>T

Select item 147323229414.

rs1473232294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:38919276 (GRCh38)
5:38919378 (GRCh37)
Canonical SPDI:: NC_000005.10:38919275:G:A,NC_000005.10:38919275:G:T
Gene:: OSMR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38919276G>A, NC_000005.10:g.38919276G>T, NC_000005.9:g.38919378G>A, NC_000005.9:g.38919378G>T, NG_016236.1:g.78419G>A, NG_016236.1:g.78419G>T, NM_001323507.2:c.1655G>A, NM_001323507.2:c.1655G>T, NM_001323507.1:c.1655G>A, NM_001323507.1:c.1655G>T, XM_005248386.3:c.1658G>A, XM_005248386.3:c.1658G>T, XM_005248386.2:c.1658G>A, XM_005248386.2:c.1658G>T, XM_005248386.1:c.1658G>A, XM_005248386.1:c.1658G>T, XM_005248387.3:c.1655G>A, XM_005248387.3:c.1655G>T, XM_005248387.2:c.1655G>A, XM_005248387.2:c.1655G>T, XM_005248387.1:c.1655G>A, XM_005248387.1:c.1655G>T, XM_047417873.1:c.1658G>A, XM_047417873.1:c.1658G>T, NP_001310436.1:p.Gly552Glu, NP_001310436.1:p.Gly552Val, XP_005248443.1:p.Gly553Glu, XP_005248443.1:p.Gly553Val, XP_005248444.1:p.Gly552Glu, XP_005248444.1:p.Gly552Val, XP_047273829.1:p.Gly553Glu, XP_047273829.1:p.Gly553Val

Select item 147186433615.

rs1471864336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:38919269 (GRCh38)
5:38919371 (GRCh37)
Canonical SPDI:: NC_000005.10:38919268:G:C
Gene:: OSMR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.38919269G>C, NC_000005.9:g.38919371G>C, NG_016236.1:g.78412G>C, NM_001323507.2:c.1648G>C, NM_001323507.1:c.1648G>C, XM_005248386.3:c.1651G>C, XM_005248386.2:c.1651G>C, XM_005248386.1:c.1651G>C, XM_005248387.3:c.1648G>C, XM_005248387.2:c.1648G>C, XM_005248387.1:c.1648G>C, XM_047417873.1:c.1651G>C, NP_001310436.1:p.Gly550Arg, XP_005248443.1:p.Gly551Arg, XP_005248444.1:p.Gly550Arg, XP_047273829.1:p.Gly551Arg

Select item 147092104216.

rs1470921042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:38883895 (GRCh38)
5:38883997 (GRCh37)
Canonical SPDI:: NC_000005.10:38883894:A:G
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.38883895A>G, NC_000005.9:g.38883997A>G, NG_016236.1:g.43038A>G, NM_003999.3:c.487A>G, NM_003999.2:c.487A>G, NM_001168355.3:c.487A>G, NM_001168355.2:c.487A>G, NM_001168355.1:c.487A>G, NM_001323506.2:c.487A>G, NM_001323506.1:c.487A>G, NM_001323505.2:c.487A>G, NM_001323505.1:c.487A>G, NM_001323507.2:c.487A>G, NM_001323507.1:c.487A>G, NM_001323504.2:c.487A>G, NM_001323504.1:c.487A>G, XM_011514161.3:c.487A>G, XM_011514161.2:c.487A>G, XM_011514161.1:c.487A>G, XM_005248386.3:c.487A>G, XM_005248386.2:c.487A>G, XM_005248386.1:c.487A>G, XM_005248387.3:c.487A>G, XM_005248387.2:c.487A>G, XM_005248387.1:c.487A>G, XM_017010019.2:c.487A>G, XM_017010019.1:c.487A>G, XM_005248384.1:c.487A>G, XM_047417870.1:c.487A>G, XM_047417871.1:c.487A>G, XM_047417872.1:c.487A>G, XR_925661.1:n.876A>G, XR_007058659.1:n.876A>G, XR_007058660.1:n.615A>G, XM_047417873.1:c.487A>G, NP_003990.1:p.Asn163Asp, NP_001161827.1:p.Asn163Asp, NP_001310435.1:p.Asn163Asp, NP_001310434.1:p.Asn163Asp, NP_001310436.1:p.Asn163Asp, NP_001310433.1:p.Asn163Asp, XP_011512463.1:p.Asn163Asp, XP_005248443.1:p.Asn163Asp, XP_005248444.1:p.Asn163Asp, XP_016865508.1:p.Asn163Asp, XP_005248441.1:p.Asn163Asp, XP_047273826.1:p.Asn163Asp, XP_047273827.1:p.Asn163Asp, XP_047273828.1:p.Asn163Asp, XP_047273829.1:p.Asn163Asp

Select item 146972432117.

rs1469724321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:38904385 (GRCh38)
5:38904487 (GRCh37)
Canonical SPDI:: NC_000005.10:38904384:C:T
Gene:: OSMR (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.38904385C>T, NC_000005.9:g.38904487C>T, NG_016236.1:g.63528C>T, NM_003999.3:c.1167C>T, NM_003999.2:c.1167C>T, NM_001323506.2:c.1170C>T, NM_001323506.1:c.1170C>T, NM_001323505.2:c.1167C>T, NM_001323505.1:c.1167C>T, NM_001323507.2:c.1167C>T, NM_001323507.1:c.1167C>T, XM_011514161.3:c.1170C>T, XM_011514161.2:c.1170C>T, XM_011514161.1:c.1170C>T, XM_005248386.3:c.1170C>T, XM_005248386.2:c.1170C>T, XM_005248386.1:c.1170C>T, XM_005248387.3:c.1167C>T, XM_005248387.2:c.1167C>T, XM_005248387.1:c.1167C>T, XM_017010019.2:c.1167C>T, XM_017010019.1:c.1167C>T, XM_005248384.1:c.1170C>T, XM_047417870.1:c.1170C>T, XM_047417871.1:c.1167C>T, XM_047417872.1:c.1167C>T, XR_925661.1:n.1559C>T, XR_007058659.1:n.1556C>T, XR_007058660.1:n.1295C>T, XM_047417873.1:c.1170C>T

Select item 146654773418.

rs1466547734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:38917575 (GRCh38)
5:38917677 (GRCh37)
Canonical SPDI:: NC_000005.10:38917574:A:C
Gene:: OSMR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.38917575A>C, NC_000005.9:g.38917677A>C, NG_016236.1:g.76718A>C, NM_003999.3:c.1315A>C, NM_003999.2:c.1315A>C, NM_001323506.2:c.1318A>C, NM_001323506.1:c.1318A>C, NM_001323505.2:c.1315A>C, NM_001323505.1:c.1315A>C, NM_001323507.2:c.1315A>C, NM_001323507.1:c.1315A>C, XM_011514161.3:c.1318A>C, XM_011514161.2:c.1318A>C, XM_011514161.1:c.1318A>C, XM_005248386.3:c.1318A>C, XM_005248386.2:c.1318A>C, XM_005248386.1:c.1318A>C, XM_005248387.3:c.1315A>C, XM_005248387.2:c.1315A>C, XM_005248387.1:c.1315A>C, XM_017010019.2:c.1315A>C, XM_017010019.1:c.1315A>C, XM_005248384.1:c.1318A>C, XM_047417870.1:c.1318A>C, XM_047417871.1:c.1315A>C, XM_047417872.1:c.1315A>C, XR_925661.1:n.1707A>C, XR_007058659.1:n.1704A>C, XR_007058660.1:n.1443A>C, XM_047417873.1:c.1318A>C, NP_003990.1:p.Ile439Leu, NP_001310435.1:p.Ile440Leu, NP_001310434.1:p.Ile439Leu, NP_001310436.1:p.Ile439Leu, XP_011512463.1:p.Ile440Leu, XP_005248443.1:p.Ile440Leu, XP_005248444.1:p.Ile439Leu, XP_016865508.1:p.Ile439Leu, XP_005248441.1:p.Ile440Leu, XP_047273826.1:p.Ile440Leu, XP_047273827.1:p.Ile439Leu, XP_047273828.1:p.Ile439Leu, XP_047273829.1:p.Ile440Leu

Select item 146638968519.

rs1466389685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:38918908 (GRCh38)
5:38919010 (GRCh37)
Canonical SPDI:: NC_000005.10:38918907:A:C,NC_000005.10:38918907:A:G
Gene:: OSMR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.004913/9 (Korea1K)
HGVS:: NC_000005.10:g.38918908A>C, NC_000005.10:g.38918908A>G, NC_000005.9:g.38919010A>C, NC_000005.9:g.38919010A>G, NG_016236.1:g.78051A>C, NG_016236.1:g.78051A>G, NM_003999.3:c.1431A>C, NM_003999.3:c.1431A>G, NM_003999.2:c.1431A>C, NM_003999.2:c.1431A>G, NM_001323506.2:c.1434A>C, NM_001323506.2:c.1434A>G, NM_001323506.1:c.1434A>C, NM_001323506.1:c.1434A>G, NM_001323505.2:c.1431A>C, NM_001323505.2:c.1431A>G, NM_001323505.1:c.1431A>C, NM_001323505.1:c.1431A>G, NM_001323507.2:c.1431A>C, NM_001323507.2:c.1431A>G, NM_001323507.1:c.1431A>C, NM_001323507.1:c.1431A>G, XM_011514161.3:c.1434A>C, XM_011514161.3:c.1434A>G, XM_011514161.2:c.1434A>C, XM_011514161.2:c.1434A>G, XM_011514161.1:c.1434A>C, XM_011514161.1:c.1434A>G, XM_005248386.3:c.1434A>C, XM_005248386.3:c.1434A>G, XM_005248386.2:c.1434A>C, XM_005248386.2:c.1434A>G, XM_005248386.1:c.1434A>C, XM_005248386.1:c.1434A>G, XM_005248387.3:c.1431A>C, XM_005248387.3:c.1431A>G, XM_005248387.2:c.1431A>C, XM_005248387.2:c.1431A>G, XM_005248387.1:c.1431A>C, XM_005248387.1:c.1431A>G, XM_017010019.2:c.1431A>C, XM_017010019.2:c.1431A>G, XM_017010019.1:c.1431A>C, XM_017010019.1:c.1431A>G, XM_005248384.1:c.1434A>C, XM_005248384.1:c.1434A>G, XM_047417870.1:c.1434A>C, XM_047417870.1:c.1434A>G, XM_047417871.1:c.1431A>C, XM_047417871.1:c.1431A>G, XM_047417872.1:c.1431A>C, XM_047417872.1:c.1431A>G, XR_925661.1:n.1823A>C, XR_925661.1:n.1823A>G, XR_007058659.1:n.1820A>C, XR_007058659.1:n.1820A>G, XR_007058660.1:n.1559A>C, XR_007058660.1:n.1559A>G, XM_047417873.1:c.1434A>C, XM_047417873.1:c.1434A>G, NP_003990.1:p.Lys477Asn, NP_001310435.1:p.Lys478Asn, NP_001310434.1:p.Lys477Asn, NP_001310436.1:p.Lys477Asn, XP_011512463.1:p.Lys478Asn, XP_005248443.1:p.Lys478Asn, XP_005248444.1:p.Lys477Asn, XP_016865508.1:p.Lys477Asn, XP_005248441.1:p.Lys478Asn, XP_047273826.1:p.Lys478Asn, XP_047273827.1:p.Lys477Asn, XP_047273828.1:p.Lys477Asn, XP_047273829.1:p.Lys478Asn

Select item 146136996920.

rs1461369969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:38883966 (GRCh38)
5:38884068 (GRCh37)
Canonical SPDI:: NC_000005.10:38883965:T:A,NC_000005.10:38883965:T:C
Gene:: OSMR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
C=0.000071/2 (TOMMO)
HGVS:: NC_000005.10:g.38883966T>A, NC_000005.10:g.38883966T>C, NC_000005.9:g.38884068T>A, NC_000005.9:g.38884068T>C, NG_016236.1:g.43109T>A, NG_016236.1:g.43109T>C, NM_003999.3:c.558T>A, NM_003999.3:c.558T>C, NM_003999.2:c.558T>A, NM_003999.2:c.558T>C, NM_001168355.3:c.558T>A, NM_001168355.3:c.558T>C, NM_001168355.2:c.558T>A, NM_001168355.2:c.558T>C, NM_001168355.1:c.558T>A, NM_001168355.1:c.558T>C, NM_001323506.2:c.558T>A, NM_001323506.2:c.558T>C, NM_001323506.1:c.558T>A, NM_001323506.1:c.558T>C, NM_001323505.2:c.558T>A, NM_001323505.2:c.558T>C, NM_001323505.1:c.558T>A, NM_001323505.1:c.558T>C, NM_001323507.2:c.558T>A, NM_001323507.2:c.558T>C, NM_001323507.1:c.558T>A, NM_001323507.1:c.558T>C, NM_001323504.2:c.558T>A, NM_001323504.2:c.558T>C, NM_001323504.1:c.558T>A, NM_001323504.1:c.558T>C, XM_011514161.3:c.558T>A, XM_011514161.3:c.558T>C, XM_011514161.2:c.558T>A, XM_011514161.2:c.558T>C, XM_011514161.1:c.558T>A, XM_011514161.1:c.558T>C, XM_005248386.3:c.558T>A, XM_005248386.3:c.558T>C, XM_005248386.2:c.558T>A, XM_005248386.2:c.558T>C, XM_005248386.1:c.558T>A, XM_005248386.1:c.558T>C, XM_005248387.3:c.558T>A, XM_005248387.3:c.558T>C, XM_005248387.2:c.558T>A, XM_005248387.2:c.558T>C, XM_005248387.1:c.558T>A, XM_005248387.1:c.558T>C, XM_017010019.2:c.558T>A, XM_017010019.2:c.558T>C, XM_017010019.1:c.558T>A, XM_017010019.1:c.558T>C, XM_005248384.1:c.558T>A, XM_005248384.1:c.558T>C, XM_047417870.1:c.558T>A, XM_047417870.1:c.558T>C, XM_047417871.1:c.558T>A, XM_047417871.1:c.558T>C, XM_047417872.1:c.558T>A, XM_047417872.1:c.558T>C, XR_925661.1:n.947T>A, XR_925661.1:n.947T>C, XR_007058659.1:n.947T>A, XR_007058659.1:n.947T>C, XR_007058660.1:n.686T>A, XR_007058660.1:n.686T>C, XM_047417873.1:c.558T>A, XM_047417873.1:c.558T>C

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