SNP Links for Protein (Select 30425410) - SNP

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Links from Protein

Items: 1 to 20 of 284

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Select item 14895542391.

rs1489554239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44345354 (GRCh38)
20:42973994 (GRCh37)
Canonical SPDI:: NC_000020.11:44345353:A:G
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44345354A>G, NC_000020.10:g.42973994A>G, NM_178491.4:c.605A>G, NM_178491.3:c.605A>G, NP_848586.1:p.Tyr202Cys

Select item 14873038622.

rs1487303862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44350770 (GRCh38)
20:42979410 (GRCh37)
Canonical SPDI:: NC_000020.11:44350769:C:T
Gene:: R3HDML (Varview), R3HDML-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.44350770C>T, NC_000020.10:g.42979410C>T, XR_936747.4:n.529G>A, XR_936747.3:n.553G>A, XR_936747.2:n.553G>A, XR_936747.1:n.492G>A, NM_178491.4:c.740C>T, NM_178491.3:c.740C>T, XR_936746.3:n.584G>A, XR_936746.2:n.584G>A, XR_936746.1:n.577G>A, XR_936745.3:n.584G>A, XR_936745.2:n.584G>A, XR_936745.1:n.573G>A, NP_848586.1:p.Ser247Phe

Select item 14682109173.

rs1468210917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44343407 (GRCh38)
20:42972047 (GRCh37)
Canonical SPDI:: NC_000020.11:44343406:C:T
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44343407C>T, NC_000020.10:g.42972047C>T, NM_178491.4:c.411C>T, NM_178491.3:c.411C>T

Select item 14678974104.

rs1467897410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44350759 (GRCh38)
20:42979399 (GRCh37)
Canonical SPDI:: NC_000020.11:44350758:G:A
Gene:: R3HDML (Varview), R3HDML-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44350759G>A, NC_000020.10:g.42979399G>A, XR_936747.4:n.540C>T, XR_936747.3:n.564C>T, XR_936747.2:n.564C>T, XR_936747.1:n.503C>T, NM_178491.4:c.729G>A, NM_178491.3:c.729G>A, XR_936746.3:n.595C>T, XR_936746.2:n.595C>T, XR_936746.1:n.588C>T, XR_936745.3:n.595C>T, XR_936745.2:n.595C>T, XR_936745.1:n.584C>T

Select item 14655975245.

rs1465597524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44341216 (GRCh38)
20:42969856 (GRCh37)
Canonical SPDI:: NC_000020.11:44341215:C:T
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.44341216C>T, NC_000020.10:g.42969856C>T, NM_178491.4:c.282C>T, NM_178491.3:c.282C>T

Select item 14594966586.

rs1459496658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:44341204 (GRCh38)
20:42969844 (GRCh37)
Canonical SPDI:: NC_000020.11:44341203:C:A,NC_000020.11:44341203:C:T
Gene:: R3HDML (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.44341204C>A, NC_000020.11:g.44341204C>T, NC_000020.10:g.42969844C>A, NC_000020.10:g.42969844C>T, NM_178491.4:c.270C>A, NM_178491.4:c.270C>T, NM_178491.3:c.270C>A, NM_178491.3:c.270C>T, NP_848586.1:p.Asp90Glu

Select item 14576773667.

rs1457677366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:44345325 (GRCh38)
20:42973965 (GRCh37)
Canonical SPDI:: NC_000020.11:44345324:C:A,NC_000020.11:44345324:C:G
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.44345325C>A, NC_000020.11:g.44345325C>G, NC_000020.10:g.42973965C>A, NC_000020.10:g.42973965C>G, NM_178491.4:c.576C>A, NM_178491.4:c.576C>G, NM_178491.3:c.576C>A, NM_178491.3:c.576C>G

Select item 14566535078.

rs1456653507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44350708 (GRCh38)
20:42979348 (GRCh37)
Canonical SPDI:: NC_000020.11:44350707:C:T
Gene:: R3HDML (Varview), R3HDML-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44350708C>T, NC_000020.10:g.42979348C>T, XR_936747.4:n.591G>A, XR_936747.3:n.615G>A, XR_936747.2:n.615G>A, XR_936747.1:n.554G>A, NM_178491.4:c.678C>T, NM_178491.3:c.678C>T, XR_936746.3:n.646G>A, XR_936746.2:n.646G>A, XR_936746.1:n.639G>A, XR_936745.3:n.646G>A, XR_936745.2:n.646G>A, XR_936745.1:n.635G>A

Select item 14517582419.

rs1451758241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44341251 (GRCh38)
20:42969891 (GRCh37)
Canonical SPDI:: NC_000020.11:44341250:G:A
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.44341251G>A, NC_000020.10:g.42969891G>A, NM_178491.4:c.317G>A, NM_178491.3:c.317G>A, NP_848586.1:p.Trp106Ter

Select item 144436558610.

rs1444365586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44341272 (GRCh38)
20:42969912 (GRCh37)
Canonical SPDI:: NC_000020.11:44341271:T:C
Gene:: R3HDML (Varview)
Functional Consequence:: missense_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_000020.11:g.44341272T>C, NC_000020.10:g.42969912T>C, NM_178491.4:c.338T>C, NM_178491.3:c.338T>C, NP_848586.1:p.Leu113Pro

Select item 143759940211.

rs1437599402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:44337362 (GRCh38)
20:42966002 (GRCh37)
Canonical SPDI:: NC_000020.11:44337361:T:A
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44337362T>A, NC_000020.10:g.42966002T>A, NM_178491.4:c.205T>A, NM_178491.3:c.205T>A, NP_848586.1:p.Tyr69Asn

Select item 143751261712.

rs1437512617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:44350719 (GRCh38)
20:42979359 (GRCh37)
Canonical SPDI:: NC_000020.11:44350718:C:G
Gene:: R3HDML (Varview), R3HDML-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44350719C>G, NC_000020.10:g.42979359C>G, XR_936747.4:n.580G>C, XR_936747.3:n.604G>C, XR_936747.2:n.604G>C, XR_936747.1:n.543G>C, NM_178491.4:c.689C>G, NM_178491.3:c.689C>G, XR_936746.3:n.635G>C, XR_936746.2:n.635G>C, XR_936746.1:n.628G>C, XR_936745.3:n.635G>C, XR_936745.2:n.635G>C, XR_936745.1:n.624G>C, NP_848586.1:p.Pro230Arg

Select item 143681095313.

rs1436810953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44343433 (GRCh38)
20:42972073 (GRCh37)
Canonical SPDI:: NC_000020.11:44343432:T:C
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44343433T>C, NC_000020.10:g.42972073T>C, NM_178491.4:c.437T>C, NM_178491.3:c.437T>C, NP_848586.1:p.Leu146Ser

Select item 143515941614.

rs1435159416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44345315 (GRCh38)
20:42973955 (GRCh37)
Canonical SPDI:: NC_000020.11:44345314:G:A
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44345315G>A, NC_000020.10:g.42973955G>A, NM_178491.4:c.566G>A, NM_178491.3:c.566G>A, NP_848586.1:p.Ser189Asn

Select item 143410404015.

rs1434104040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44343392 (GRCh38)
20:42972032 (GRCh37)
Canonical SPDI:: NC_000020.11:44343391:G:A
Gene:: R3HDML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44343392G>A, NC_000020.10:g.42972032G>A, NM_178491.4:c.396G>A, NM_178491.3:c.396G>A

Select item 143293152916.

rs1432931529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:44337248 (GRCh38)
20:42965888 (GRCh37)
Canonical SPDI:: NC_000020.11:44337247:C:A,NC_000020.11:44337247:C:G
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.44337248C>A, NC_000020.11:g.44337248C>G, NC_000020.10:g.42965888C>A, NC_000020.10:g.42965888C>G, NM_178491.4:c.91C>A, NM_178491.4:c.91C>G, NM_178491.3:c.91C>A, NM_178491.3:c.91C>G, NP_848586.1:p.Pro31Thr, NP_848586.1:p.Pro31Ala

Select item 143251077417.

rs1432510774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:44341261 (GRCh38)
20:42969901 (GRCh37)
Canonical SPDI:: NC_000020.11:44341260:G:A,NC_000020.11:44341260:G:T
Gene:: R3HDML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44341261G>A, NC_000020.11:g.44341261G>T, NC_000020.10:g.42969901G>A, NC_000020.10:g.42969901G>T, NM_178491.4:c.327G>A, NM_178491.4:c.327G>T, NM_178491.3:c.327G>A, NM_178491.3:c.327G>T

Select item 142897364318.

rs1428973643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:44350663 (GRCh38)
20:42979303 (GRCh37)
Canonical SPDI:: NC_000020.11:44350662:C:A
Gene:: R3HDML (Varview), R3HDML-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44350663C>A, NC_000020.10:g.42979303C>A, XR_936747.4:n.636G>T, XR_936747.3:n.660G>T, XR_936747.2:n.660G>T, XR_936747.1:n.599G>T, NM_178491.4:c.633C>A, NM_178491.3:c.633C>A, XR_936746.3:n.691G>T, XR_936746.2:n.691G>T, XR_936746.1:n.684G>T, XR_936745.3:n.691G>T, XR_936745.2:n.691G>T, XR_936745.1:n.680G>T

Select item 142174396819.

rs1421743968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44345277 (GRCh38)
20:42973917 (GRCh37)
Canonical SPDI:: NC_000020.11:44345276:C:T
Gene:: R3HDML (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44345277C>T, NC_000020.10:g.42973917C>T, NM_178491.4:c.528C>T, NM_178491.3:c.528C>T

Select item 141502233120.

rs1415022331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44337216 (GRCh38)
20:42965856 (GRCh37)
Canonical SPDI:: NC_000020.11:44337215:C:T
Gene:: R3HDML (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44337216C>T, NC_000020.10:g.42965856C>T, NM_178491.4:c.59C>T, NM_178491.3:c.59C>T, NP_848586.1:p.Ala20Val