SNP Links for Protein (Select 767964230) - SNP

Links from Protein

Items: 1 to 20 of 1036

<< First< Prev

Page of 52

Next >Last >>

Select item 14887443781.

rs1488744378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84214317 (GRCh38)
10:85974073 (GRCh37)
Canonical SPDI:: NC_000010.11:84214316:A:G
Gene:: CDHR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84214317A>G, NC_000010.10:g.85974073A>G, NG_028034.1:g.24662A>G, NM_033100.4:c.2276A>G, NM_033100.3:c.2276A>G, XM_011540337.2:c.2450A>G, XM_011540337.1:c.2450A>G, XM_011540339.2:c.1829A>G, XM_011540339.1:c.1829A>G, XM_047425997.1:c.1553A>G, NP_149091.1:p.Lys759Arg, XP_011538639.1:p.Lys817Arg, XP_011538641.1:p.Lys610Arg, XP_047281953.1:p.Lys518Arg

Select item 14883903232.

rs1488390323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84213344 (GRCh38)
10:85973100 (GRCh37)
Canonical SPDI:: NC_000010.11:84213343:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84213344C>T, NC_000010.10:g.85973100C>T, NG_028034.1:g.23689C>T, NM_033100.4:c.2036C>T, NM_033100.3:c.2036C>T, NM_001171971.3:c.2036C>T, NM_001171971.2:c.2036C>T, XM_011540337.2:c.2210C>T, XM_011540337.1:c.2210C>T, XM_011540339.2:c.1589C>T, XM_011540339.1:c.1589C>T, XM_011540338.2:c.2210C>T, XM_011540338.1:c.2210C>T, XM_047425997.1:c.1313C>T, NP_149091.1:p.Ala679Val, NP_001165442.1:p.Ala679Val, XP_011538639.1:p.Ala737Val, XP_011538641.1:p.Ala530Val, XP_011538640.1:p.Ala737Val, XP_047281953.1:p.Ala438Val

Select item 14880930573.

rs1488093057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84213107 (GRCh38)
10:85972863 (GRCh37)
Canonical SPDI:: NC_000010.11:84213106:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84213107C>T, NC_000010.10:g.85972863C>T, NG_028034.1:g.23452C>T, NM_033100.4:c.1799C>T, NM_033100.3:c.1799C>T, NM_001171971.3:c.1799C>T, NM_001171971.2:c.1799C>T, XM_011540340.4:c.*60C>T, XM_011540340.3:c.*60C>T, XM_011540340.2:c.*60C>T, XM_011540340.1:c.*60C>T, XM_011540337.2:c.1973C>T, XM_011540337.1:c.1973C>T, XM_011540339.2:c.1352C>T, XM_011540339.1:c.1352C>T, XM_011540338.2:c.1973C>T, XM_011540338.1:c.1973C>T, XM_047425997.1:c.1076C>T, NP_149091.1:p.Ala600Val, NP_001165442.1:p.Ala600Val, XP_011538639.1:p.Ala658Val, XP_011538641.1:p.Ala451Val, XP_011538640.1:p.Ala658Val, XP_047281953.1:p.Ala359Val

Select item 14861094324.

rs1486109432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:84200685 (GRCh38)
10:85960441 (GRCh37)
Canonical SPDI:: NC_000010.11:84200684:C:A,NC_000010.11:84200684:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84200685C>A, NC_000010.11:g.84200685C>T, NC_000010.10:g.85960441C>A, NC_000010.10:g.85960441C>T, NG_028034.1:g.11030C>A, NG_028034.1:g.11030C>T, NM_033100.4:c.523C>A, NM_033100.4:c.523C>T, NM_033100.3:c.523C>A, NM_033100.3:c.523C>T, NM_001171971.3:c.523C>A, NM_001171971.3:c.523C>T, NM_001171971.2:c.523C>A, NM_001171971.2:c.523C>T, XM_011540340.4:c.697C>A, XM_011540340.4:c.697C>T, XM_011540340.3:c.697C>A, XM_011540340.3:c.697C>T, XM_011540340.2:c.697C>A, XM_011540340.2:c.697C>T, XM_011540340.1:c.697C>A, XM_011540340.1:c.697C>T, XM_011540337.2:c.697C>A, XM_011540337.2:c.697C>T, XM_011540337.1:c.697C>A, XM_011540337.1:c.697C>T, XM_011540339.2:c.144C>A, XM_011540339.2:c.144C>T, XM_011540339.1:c.144C>A, XM_011540339.1:c.144C>T, XM_011540338.2:c.697C>A, XM_011540338.2:c.697C>T, XM_011540338.1:c.697C>A, XM_011540338.1:c.697C>T, XM_047425997.1:c.-201C>A, XM_047425997.1:c.-201C>T, NP_149091.1:p.Gln175Lys, NP_149091.1:p.Gln175Ter, NP_001165442.1:p.Gln175Lys, NP_001165442.1:p.Gln175Ter, XP_011538642.1:p.Gln233Lys, XP_011538642.1:p.Gln233Ter, XP_011538639.1:p.Gln233Lys, XP_011538639.1:p.Gln233Ter, XP_011538641.1:p.Cys48Ter, XP_011538640.1:p.Gln233Lys, XP_011538640.1:p.Gln233Ter

Select item 14849550295.

rs1484955029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84205865 (GRCh38)
10:85965621 (GRCh37)
Canonical SPDI:: NC_000010.11:84205864:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84205865G>A, NC_000010.10:g.85965621G>A, NG_028034.1:g.16210G>A, NM_033100.4:c.901G>A, NM_033100.3:c.901G>A, NM_001171971.3:c.901G>A, NM_001171971.2:c.901G>A, XM_011540340.4:c.1075G>A, XM_011540340.3:c.1075G>A, XM_011540340.2:c.1075G>A, XM_011540340.1:c.1075G>A, XM_011540337.2:c.1075G>A, XM_011540337.1:c.1075G>A, XM_011540339.2:c.454G>A, XM_011540339.1:c.454G>A, XM_011540338.2:c.1075G>A, XM_011540338.1:c.1075G>A, XM_047425997.1:c.178G>A, NP_149091.1:p.Ala301Thr, NP_001165442.1:p.Ala301Thr, XP_011538642.1:p.Ala359Thr, XP_011538639.1:p.Ala359Thr, XP_011538641.1:p.Ala152Thr, XP_011538640.1:p.Ala359Thr, XP_047281953.1:p.Ala60Thr

Select item 14841475856.

rs1484147585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84213324 (GRCh38)
10:85973080 (GRCh37)
Canonical SPDI:: NC_000010.11:84213323:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84213324C>T, NC_000010.10:g.85973080C>T, NG_028034.1:g.23669C>T, NM_033100.4:c.2016C>T, NM_033100.3:c.2016C>T, NM_001171971.3:c.2016C>T, NM_001171971.2:c.2016C>T, XM_011540337.2:c.2190C>T, XM_011540337.1:c.2190C>T, XM_011540339.2:c.1569C>T, XM_011540339.1:c.1569C>T, XM_011540338.2:c.2190C>T, XM_011540338.1:c.2190C>T, XM_047425997.1:c.1293C>T

Select item 14838524027.

rs1483852402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84201848 (GRCh38)
10:85961604 (GRCh37)
Canonical SPDI:: NC_000010.11:84201847:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84201848G>A, NC_000010.10:g.85961604G>A, NG_028034.1:g.12193G>A, NM_033100.4:c.567G>A, NM_033100.3:c.567G>A, NM_001171971.3:c.567G>A, NM_001171971.2:c.567G>A, XM_011540340.4:c.741G>A, XM_011540340.3:c.741G>A, XM_011540340.2:c.741G>A, XM_011540340.1:c.741G>A, XM_011540337.2:c.741G>A, XM_011540337.1:c.741G>A, XM_011540339.2:c.188G>A, XM_011540339.1:c.188G>A, XM_011540338.2:c.741G>A, XM_011540338.1:c.741G>A, XM_047425997.1:c.-157G>A, XP_011538641.1:p.Cys63Tyr

Select item 14835238218.

rs1483523821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84203050 (GRCh38)
10:85962806 (GRCh37)
Canonical SPDI:: NC_000010.11:84203049:A:G
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.84203050A>G, NC_000010.10:g.85962806A>G, NG_028034.1:g.13395A>G, NM_033100.4:c.710A>G, NM_033100.3:c.710A>G, NM_001171971.3:c.710A>G, NM_001171971.2:c.710A>G, XM_011540340.4:c.884A>G, XM_011540340.3:c.884A>G, XM_011540340.2:c.884A>G, XM_011540340.1:c.884A>G, XM_011540337.2:c.884A>G, XM_011540337.1:c.884A>G, XM_011540339.2:c.331A>G, XM_011540339.1:c.331A>G, XM_011540338.2:c.884A>G, XM_011540338.1:c.884A>G, XM_047425997.1:c.-14A>G, NP_149091.1:p.Glu237Gly, NP_001165442.1:p.Glu237Gly, XP_011538642.1:p.Glu295Gly, XP_011538639.1:p.Glu295Gly, XP_011538641.1:p.Arg111Gly, XP_011538640.1:p.Glu295Gly

Select item 14822859629.

rs1482285962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84208286 (GRCh38)
10:85968042 (GRCh37)
Canonical SPDI:: NC_000010.11:84208285:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84208286C>T, NC_000010.10:g.85968042C>T, NG_028034.1:g.18631C>T, NM_033100.4:c.1076C>T, NM_033100.3:c.1076C>T, NM_001171971.3:c.1076C>T, NM_001171971.2:c.1076C>T, XM_011540340.4:c.1250C>T, XM_011540340.3:c.1250C>T, XM_011540340.2:c.1250C>T, XM_011540340.1:c.1250C>T, XM_011540337.2:c.1250C>T, XM_011540337.1:c.1250C>T, XM_011540339.2:c.629C>T, XM_011540339.1:c.629C>T, XM_011540338.2:c.1250C>T, XM_011540338.1:c.1250C>T, XM_047425997.1:c.353C>T, NP_149091.1:p.Pro359Leu, NP_001165442.1:p.Pro359Leu, XP_011538642.1:p.Pro417Leu, XP_011538639.1:p.Pro417Leu, XP_011538641.1:p.Pro210Leu, XP_011538640.1:p.Pro417Leu, XP_047281953.1:p.Pro118Leu

Select item 148096626010.

rs1480966260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84211672 (GRCh38)
10:85971428 (GRCh37)
Canonical SPDI:: NC_000010.11:84211671:T:C
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.84211672T>C, NC_000010.10:g.85971428T>C, NG_028034.1:g.22017T>C, NM_033100.4:c.1510T>C, NM_033100.3:c.1510T>C, NM_001171971.3:c.1510T>C, NM_001171971.2:c.1510T>C, XM_011540340.4:c.1684T>C, XM_011540340.3:c.1684T>C, XM_011540340.2:c.1684T>C, XM_011540340.1:c.1684T>C, XM_011540337.2:c.1684T>C, XM_011540337.1:c.1684T>C, XM_011540339.2:c.1063T>C, XM_011540339.1:c.1063T>C, XM_011540338.2:c.1684T>C, XM_011540338.1:c.1684T>C, XM_047425997.1:c.787T>C, NP_149091.1:p.Trp504Arg, NP_001165442.1:p.Trp504Arg, XP_011538642.1:p.Trp562Arg, XP_011538639.1:p.Trp562Arg, XP_011538641.1:p.Trp355Arg, XP_011538640.1:p.Trp562Arg, XP_047281953.1:p.Trp263Arg

Select item 148093466811.

rs1480934668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:84212257 (GRCh38)
10:85972013 (GRCh37)
Canonical SPDI:: NC_000010.11:84212256:C:T
Gene:: CDHR1 (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_000010.11:g.84212257C>T, NC_000010.10:g.85972013C>T, NG_028034.1:g.22602C>T, NM_033100.4:c.1632C>T, NM_033100.3:c.1632C>T, NM_001171971.3:c.1632C>T, NM_001171971.2:c.1632C>T, XM_011540340.4:c.1806C>T, XM_011540340.3:c.1806C>T, XM_011540340.2:c.1806C>T, XM_011540340.1:c.1806C>T, XM_011540337.2:c.1806C>T, XM_011540337.1:c.1806C>T, XM_011540339.2:c.1185C>T, XM_011540339.1:c.1185C>T, XM_011540338.2:c.1806C>T, XM_011540338.1:c.1806C>T, XM_047425997.1:c.909C>T

Select item 148058871712.

rs1480588717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84195309 (GRCh38)
10:85955065 (GRCh37)
Canonical SPDI:: NC_000010.11:84195308:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.84195309G>A, NC_000010.10:g.85955065G>A, NG_028034.1:g.5654G>A, XM_011540340.4:c.45G>A, XM_011540340.3:c.45G>A, XM_011540340.2:c.45G>A, XM_011540340.1:c.45G>A, XM_011540337.2:c.45G>A, XM_011540337.1:c.45G>A, XM_011540338.2:c.45G>A, XM_011540338.1:c.45G>A

Select item 147884792113.

rs1478847921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:84214209 (GRCh38)
10:85973965 (GRCh37)
Canonical SPDI:: NC_000010.11:84214208:C:G,NC_000010.11:84214208:C:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84214209C>G, NC_000010.11:g.84214209C>T, NC_000010.10:g.85973965C>G, NC_000010.10:g.85973965C>T, NG_028034.1:g.24554C>G, NG_028034.1:g.24554C>T, NM_033100.4:c.2168C>G, NM_033100.4:c.2168C>T, NM_033100.3:c.2168C>G, NM_033100.3:c.2168C>T, XM_011540337.2:c.2342C>G, XM_011540337.2:c.2342C>T, XM_011540337.1:c.2342C>G, XM_011540337.1:c.2342C>T, XM_011540339.2:c.1721C>G, XM_011540339.2:c.1721C>T, XM_011540339.1:c.1721C>G, XM_011540339.1:c.1721C>T, XM_047425997.1:c.1445C>G, XM_047425997.1:c.1445C>T, NP_149091.1:p.Thr723Ser, NP_149091.1:p.Thr723Ile, XP_011538639.1:p.Thr781Ser, XP_011538639.1:p.Thr781Ile, XP_011538641.1:p.Thr574Ser, XP_011538641.1:p.Thr574Ile, XP_047281953.1:p.Thr482Ser, XP_047281953.1:p.Thr482Ile

Select item 147873661914.

rs1478736619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84214197 (GRCh38)
10:85973953 (GRCh37)
Canonical SPDI:: NC_000010.11:84214196:T:C
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84214197T>C, NC_000010.10:g.85973953T>C, NG_028034.1:g.24542T>C, NM_033100.4:c.2156T>C, NM_033100.3:c.2156T>C, XM_011540337.2:c.2330T>C, XM_011540337.1:c.2330T>C, XM_011540339.2:c.1709T>C, XM_011540339.1:c.1709T>C, XM_047425997.1:c.1433T>C, NP_149091.1:p.Ile719Thr, XP_011538639.1:p.Ile777Thr, XP_011538641.1:p.Ile570Thr, XP_047281953.1:p.Ile478Thr

Select item 147833579015.

rs1478335790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84213204 (GRCh38)
10:85972960 (GRCh37)
Canonical SPDI:: NC_000010.11:84213203:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84213204G>A, NC_000010.10:g.85972960G>A, NG_028034.1:g.23549G>A, NM_033100.4:c.1896G>A, NM_033100.3:c.1896G>A, NM_001171971.3:c.1896G>A, NM_001171971.2:c.1896G>A, XM_011540337.2:c.2070G>A, XM_011540337.1:c.2070G>A, XM_011540339.2:c.1449G>A, XM_011540339.1:c.1449G>A, XM_011540338.2:c.2070G>A, XM_011540338.1:c.2070G>A, XM_047425997.1:c.1173G>A

Select item 147813436716.

rs1478134367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:84213172 (GRCh38)
10:85972928 (GRCh37)
Canonical SPDI:: NC_000010.11:84213171:A:G,NC_000010.11:84213171:A:T
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_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_000010.11:g.84213172A>G, NC_000010.11:g.84213172A>T, NC_000010.10:g.85972928A>G, NC_000010.10:g.85972928A>T, NG_028034.1:g.23517A>G, NG_028034.1:g.23517A>T, NM_033100.4:c.1864A>G, NM_033100.4:c.1864A>T, NM_033100.3:c.1864A>G, NM_033100.3:c.1864A>T, NM_001171971.3:c.1864A>G, NM_001171971.3:c.1864A>T, NM_001171971.2:c.1864A>G, NM_001171971.2:c.1864A>T, XM_011540337.2:c.2038A>G, XM_011540337.2:c.2038A>T, XM_011540337.1:c.2038A>G, XM_011540337.1:c.2038A>T, XM_011540339.2:c.1417A>G, XM_011540339.2:c.1417A>T, XM_011540339.1:c.1417A>G, XM_011540339.1:c.1417A>T, XM_011540338.2:c.2038A>G, XM_011540338.2:c.2038A>T, XM_011540338.1:c.2038A>G, XM_011540338.1:c.2038A>T, XM_047425997.1:c.1141A>G, XM_047425997.1:c.1141A>T, NP_149091.1:p.Ile622Val, NP_149091.1:p.Ile622Phe, NP_001165442.1:p.Ile622Val, NP_001165442.1:p.Ile622Phe, XP_011538639.1:p.Ile680Val, XP_011538639.1:p.Ile680Phe, XP_011538641.1:p.Ile473Val, XP_011538641.1:p.Ile473Phe, XP_011538640.1:p.Ile680Val, XP_011538640.1:p.Ile680Phe, XP_047281953.1:p.Ile381Val, XP_047281953.1:p.Ile381Phe

Select item 147773349317.

rs1477733493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:84211689 (GRCh38)
10:85971445 (GRCh37)
Canonical SPDI:: NC_000010.11:84211688:T:G
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84211689T>G, NC_000010.10:g.85971445T>G, NG_028034.1:g.22034T>G, NM_033100.4:c.1527T>G, NM_033100.3:c.1527T>G, NM_001171971.3:c.1527T>G, NM_001171971.2:c.1527T>G, XM_011540340.4:c.1701T>G, XM_011540340.3:c.1701T>G, XM_011540340.2:c.1701T>G, XM_011540340.1:c.1701T>G, XM_011540337.2:c.1701T>G, XM_011540337.1:c.1701T>G, XM_011540339.2:c.1080T>G, XM_011540339.1:c.1080T>G, XM_011540338.2:c.1701T>G, XM_011540338.1:c.1701T>G, XM_047425997.1:c.804T>G, NP_149091.1:p.Tyr509Ter, NP_001165442.1:p.Tyr509Ter, XP_011538642.1:p.Tyr567Ter, XP_011538639.1:p.Tyr567Ter, XP_011538641.1:p.Tyr360Ter, XP_011538640.1:p.Tyr567Ter, XP_047281953.1:p.Tyr268Ter

Select item 147747254218.

rs1477472542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84212273 (GRCh38)
10:85972029 (GRCh37)
Canonical SPDI:: NC_000010.11:84212272:G:A
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.84212273G>A, NC_000010.10:g.85972029G>A, NG_028034.1:g.22618G>A, NM_033100.4:c.1648G>A, NM_033100.3:c.1648G>A, NM_001171971.3:c.1648G>A, NM_001171971.2:c.1648G>A, XM_011540340.4:c.1822G>A, XM_011540340.3:c.1822G>A, XM_011540340.2:c.1822G>A, XM_011540340.1:c.1822G>A, XM_011540337.2:c.1822G>A, XM_011540337.1:c.1822G>A, XM_011540339.2:c.1201G>A, XM_011540339.1:c.1201G>A, XM_011540338.2:c.1822G>A, XM_011540338.1:c.1822G>A, XM_047425997.1:c.925G>A, NP_149091.1:p.Ala550Thr, NP_001165442.1:p.Ala550Thr, XP_011538642.1:p.Ala608Thr, XP_011538639.1:p.Ala608Thr, XP_011538641.1:p.Ala401Thr, XP_011538640.1:p.Ala608Thr, XP_047281953.1:p.Ala309Thr

Select item 147642374119.

rs1476423741 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:84196609 (GRCh38)
10:85956365 (GRCh37)
Canonical SPDI:: NC_000010.11:84196607:CAC:C
Gene:: CDHR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84196609_84196610del, NC_000010.10:g.85956365_85956366del, NG_028034.1:g.6954_6955del, NM_033100.4:c.256_257del, NM_033100.3:c.256_257del, NM_001171971.3:c.256_257del, NM_001171971.2:c.256_257del, XM_011540340.4:c.430_431del, XM_011540340.3:c.430_431del, XM_011540340.2:c.430_431del, XM_011540340.1:c.430_431del, XM_011540337.2:c.430_431del, XM_011540337.1:c.430_431del, XM_011540338.2:c.430_431del, XM_011540338.1:c.430_431del, XM_047425997.1:c.-468_-467del, NP_149091.1:p.Thr86fs, NP_001165442.1:p.Thr86fs, XP_011538642.1:p.Thr144fs, XP_011538639.1:p.Thr144fs, XP_011538640.1:p.Thr144fs

Select item 147497365420.

rs1474973654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:84214549 (GRCh38)
10:85974305 (GRCh37)
Canonical SPDI:: NC_000010.11:84214548:C:G
Gene:: CDHR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.84214549C>G, NC_000010.10:g.85974305C>G, NG_028034.1:g.24894C>G, NM_033100.4:c.2508C>G, NM_033100.3:c.2508C>G, XM_011540337.2:c.2682C>G, XM_011540337.1:c.2682C>G, XM_011540339.2:c.2061C>G, XM_011540339.1:c.2061C>G, XM_047425997.1:c.1785C>G

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1036

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity