SNP Links for Protein (Select 94681046) - SNP

Links from Protein

Items: 1 to 20 of 731

<< First< Prev

Page of 37

Next >Last >>

Select item 14909229321.

rs1490922932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:96797029 (GRCh38)
2:97462766 (GRCh37)
Canonical SPDI:: NC_000002.12:96797028:A:G
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96797029A>G, NC_000002.11:g.97462766A>G, NG_016608.1:g.41128A>G, NM_020184.4:c.1420A>G, NM_020184.3:c.1420A>G, XM_005263915.5:c.1420A>G, XM_005263915.4:c.1420A>G, XM_005263915.3:c.1420A>G, XM_005263915.2:c.1420A>G, XM_005263915.1:c.1420A>G, XM_005263914.5:c.1420A>G, XM_005263914.4:c.1420A>G, XM_005263914.3:c.1420A>G, XM_005263914.2:c.1420A>G, XM_005263914.1:c.1420A>G, XM_011510956.4:c.*23A>G, XM_011510956.3:c.*23A>G, XM_011510956.2:c.*23A>G, XM_011510956.1:c.*23A>G, XM_017003799.2:c.-120A>G, XM_017003799.1:c.-120A>G, XM_047443911.1:c.1420A>G, XM_047443912.1:c.1420A>G, XR_007071513.1:n.1518A>G, NP_064569.3:p.Ile474Val, XP_005263972.1:p.Ile474Val, XP_005263971.1:p.Ile474Val, XP_047299867.1:p.Ile474Val, XP_047299868.1:p.Ile474Val

Select item 14904339842.

rs1490433984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96797624 (GRCh38)
2:97463361 (GRCh37)
Canonical SPDI:: NC_000002.12:96797623:C:T
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96797624C>T, NC_000002.11:g.97463361C>T, NG_016608.1:g.41723C>T, NM_020184.4:c.1658C>T, NM_020184.3:c.1658C>T, XM_005263915.5:c.1658C>T, XM_005263915.4:c.1658C>T, XM_005263915.3:c.1658C>T, XM_005263915.2:c.1658C>T, XM_005263915.1:c.1658C>T, XM_005263914.5:c.1658C>T, XM_005263914.4:c.1658C>T, XM_005263914.3:c.1658C>T, XM_005263914.2:c.1658C>T, XM_005263914.1:c.1658C>T, XM_017003799.2:c.119C>T, XM_017003799.1:c.119C>T, XM_047443911.1:c.1658C>T, XM_047443912.1:c.1658C>T, XR_007071513.1:n.1756C>T, NP_064569.3:p.Ala553Val, XP_005263972.1:p.Ala553Val, XP_005263971.1:p.Ala553Val, XP_016859288.1:p.Ala40Val, XP_047299867.1:p.Ala553Val, XP_047299868.1:p.Ala553Val

Select item 14848342463.

rs1484834246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96799605 (GRCh38)
2:97465342 (GRCh37)
Canonical SPDI:: NC_000002.12:96799604:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/2 (TOMMO)
HGVS:: NC_000002.12:g.96799605C>T, NC_000002.11:g.97465342C>T, NG_016608.1:g.43704C>T, NM_020184.4:c.1905C>T, NM_020184.3:c.1905C>T, XM_005263915.5:c.1905C>T, XM_005263915.4:c.1905C>T, XM_005263915.3:c.1905C>T, XM_005263915.2:c.1905C>T, XM_005263915.1:c.1905C>T, XM_005263914.5:c.1905C>T, XM_005263914.4:c.1905C>T, XM_005263914.3:c.1905C>T, XM_005263914.2:c.1905C>T, XM_005263914.1:c.1905C>T, XM_017003799.2:c.366C>T, XM_017003799.1:c.366C>T, XM_047443911.1:c.1905C>T, XM_047443912.1:c.1905C>T, XR_007071513.1:n.2003C>T

Select item 14831513944.

rs1483151394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96761761 (GRCh38)
2:97427498 (GRCh37)
Canonical SPDI:: NC_000002.12:96761760:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96761761C>T, NC_000002.11:g.97427498C>T, NG_016608.1:g.5860C>T, NM_020184.4:c.762C>T, NM_020184.3:c.762C>T, XM_005263915.5:c.762C>T, XM_005263915.4:c.762C>T, XM_005263915.3:c.762C>T, XM_005263915.2:c.762C>T, XM_005263915.1:c.762C>T, XM_005263914.5:c.762C>T, XM_005263914.4:c.762C>T, XM_005263914.3:c.762C>T, XM_005263914.2:c.762C>T, XM_005263914.1:c.762C>T, XM_011510956.4:c.762C>T, XM_011510956.3:c.762C>T, XM_011510956.2:c.762C>T, XM_011510956.1:c.762C>T, XM_047443911.1:c.762C>T, XM_047443912.1:c.762C>T, XR_007071513.1:n.860C>T

Select item 14826947805.

rs1482694780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:96761240 (GRCh38)
2:97426977 (GRCh37)
Canonical SPDI:: NC_000002.12:96761239:T:C
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96761240T>C, NC_000002.11:g.97426977T>C, NG_016608.1:g.5339T>C, NM_020184.4:c.241T>C, NM_020184.3:c.241T>C, XM_005263915.5:c.241T>C, XM_005263915.4:c.241T>C, XM_005263915.3:c.241T>C, XM_005263915.2:c.241T>C, XM_005263915.1:c.241T>C, XM_005263914.5:c.241T>C, XM_005263914.4:c.241T>C, XM_005263914.3:c.241T>C, XM_005263914.2:c.241T>C, XM_005263914.1:c.241T>C, XM_011510956.4:c.241T>C, XM_011510956.3:c.241T>C, XM_011510956.2:c.241T>C, XM_011510956.1:c.241T>C, XM_047443911.1:c.241T>C, XM_047443912.1:c.241T>C, XR_007071513.1:n.339T>C, NP_064569.3:p.Tyr81His, XP_005263972.1:p.Tyr81His, XP_005263971.1:p.Tyr81His, XP_011509258.1:p.Tyr81His, XP_047299867.1:p.Tyr81His, XP_047299868.1:p.Tyr81His

Select item 14826862556.

rs1482686255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:96797079 (GRCh38)
2:97462816 (GRCh37)
Canonical SPDI:: NC_000002.12:96797078:C:A
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96797079C>A, NC_000002.11:g.97462816C>A, NG_016608.1:g.41178C>A, NM_020184.4:c.1470C>A, NM_020184.3:c.1470C>A, XM_005263915.5:c.1470C>A, XM_005263915.4:c.1470C>A, XM_005263915.3:c.1470C>A, XM_005263915.2:c.1470C>A, XM_005263915.1:c.1470C>A, XM_005263914.5:c.1470C>A, XM_005263914.4:c.1470C>A, XM_005263914.3:c.1470C>A, XM_005263914.2:c.1470C>A, XM_005263914.1:c.1470C>A, XM_011510956.4:c.*73C>A, XM_011510956.3:c.*73C>A, XM_011510956.2:c.*73C>A, XM_011510956.1:c.*73C>A, XM_017003799.2:c.-70C>A, XM_017003799.1:c.-70C>A, XM_047443911.1:c.1470C>A, XM_047443912.1:c.1470C>A, XR_007071513.1:n.1568C>A

Select item 14814309617.

rs1481430961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:96799109 (GRCh38)
2:97464846 (GRCh37)
Canonical SPDI:: NC_000002.12:96799108:A:C,NC_000002.12:96799108:A:G
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96799109A>C, NC_000002.12:g.96799109A>G, NC_000002.11:g.97464846A>C, NC_000002.11:g.97464846A>G, NG_016608.1:g.43208A>C, NG_016608.1:g.43208A>G, NM_020184.4:c.1734A>C, NM_020184.4:c.1734A>G, NM_020184.3:c.1734A>C, NM_020184.3:c.1734A>G, XM_005263915.5:c.1734A>C, XM_005263915.5:c.1734A>G, XM_005263915.4:c.1734A>C, XM_005263915.4:c.1734A>G, XM_005263915.3:c.1734A>C, XM_005263915.3:c.1734A>G, XM_005263915.2:c.1734A>C, XM_005263915.2:c.1734A>G, XM_005263915.1:c.1734A>C, XM_005263915.1:c.1734A>G, XM_005263914.5:c.1734A>C, XM_005263914.5:c.1734A>G, XM_005263914.4:c.1734A>C, XM_005263914.4:c.1734A>G, XM_005263914.3:c.1734A>C, XM_005263914.3:c.1734A>G, XM_005263914.2:c.1734A>C, XM_005263914.2:c.1734A>G, XM_005263914.1:c.1734A>C, XM_005263914.1:c.1734A>G, XM_017003799.2:c.195A>C, XM_017003799.2:c.195A>G, XM_017003799.1:c.195A>C, XM_017003799.1:c.195A>G, XM_047443911.1:c.1734A>C, XM_047443911.1:c.1734A>G, XM_047443912.1:c.1734A>C, XM_047443912.1:c.1734A>G, XR_007071513.1:n.1832A>C, XR_007071513.1:n.1832A>G

Select item 14799934788.

rs1479993478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:96808588 (GRCh38)
2:97474325 (GRCh37)
Canonical SPDI:: NC_000002.12:96808587:T:G
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96808588T>G, NC_000002.11:g.97474325T>G, NG_016608.1:g.52687T>G, NM_020184.4:c.1976T>G, NM_020184.3:c.1976T>G, XM_005263915.5:c.1976T>G, XM_005263915.4:c.1976T>G, XM_005263915.3:c.1976T>G, XM_005263915.2:c.1976T>G, XM_005263915.1:c.1976T>G, XM_005263914.5:c.2039T>G, XM_005263914.4:c.2039T>G, XM_005263914.3:c.2039T>G, XM_005263914.2:c.2039T>G, XM_005263914.1:c.2039T>G, XM_017003799.2:c.437T>G, XM_017003799.1:c.437T>G, XM_047443911.1:c.2039T>G, XM_047443912.1:c.2062T>G, XR_007071513.1:n.2395T>G, NP_064569.3:p.Leu659Arg, XP_005263972.1:p.Leu659Arg, XP_005263971.1:p.Leu680Arg, XP_016859288.1:p.Leu146Arg, XP_047299867.1:p.Leu680Arg, XP_047299868.1:p.Ser688Ala

Select item 14791737389.

rs1479173738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96761515 (GRCh38)
2:97427252 (GRCh37)
Canonical SPDI:: NC_000002.12:96761514:G:T
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96761515G>T, NC_000002.11:g.97427252G>T, NG_016608.1:g.5614G>T, NM_020184.4:c.516G>T, NM_020184.3:c.516G>T, XM_005263915.5:c.516G>T, XM_005263915.4:c.516G>T, XM_005263915.3:c.516G>T, XM_005263915.2:c.516G>T, XM_005263915.1:c.516G>T, XM_005263914.5:c.516G>T, XM_005263914.4:c.516G>T, XM_005263914.3:c.516G>T, XM_005263914.2:c.516G>T, XM_005263914.1:c.516G>T, XM_011510956.4:c.516G>T, XM_011510956.3:c.516G>T, XM_011510956.2:c.516G>T, XM_011510956.1:c.516G>T, XM_047443911.1:c.516G>T, XM_047443912.1:c.516G>T, XR_007071513.1:n.614G>T, NP_064569.3:p.Met172Ile, XP_005263972.1:p.Met172Ile, XP_005263971.1:p.Met172Ile, XP_011509258.1:p.Met172Ile, XP_047299867.1:p.Met172Ile, XP_047299868.1:p.Met172Ile

Select item 147216994610.

rs1472169946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:96762040 (GRCh38)
2:97427777 (GRCh37)
Canonical SPDI:: NC_000002.12:96762039:G:C
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96762040G>C, NC_000002.11:g.97427777G>C, NG_016608.1:g.6139G>C, NM_020184.4:c.1041G>C, NM_020184.3:c.1041G>C, XM_005263915.5:c.1041G>C, XM_005263915.4:c.1041G>C, XM_005263915.3:c.1041G>C, XM_005263915.2:c.1041G>C, XM_005263915.1:c.1041G>C, XM_005263914.5:c.1041G>C, XM_005263914.4:c.1041G>C, XM_005263914.3:c.1041G>C, XM_005263914.2:c.1041G>C, XM_005263914.1:c.1041G>C, XM_011510956.4:c.1041G>C, XM_011510956.3:c.1041G>C, XM_011510956.2:c.1041G>C, XM_011510956.1:c.1041G>C, XM_047443911.1:c.1041G>C, XM_047443912.1:c.1041G>C, XR_007071513.1:n.1139G>C

Select item 147211109811.

rs1472111098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96762133 (GRCh38)
2:97427870 (GRCh37)
Canonical SPDI:: NC_000002.12:96762132:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96762133C>T, NC_000002.11:g.97427870C>T, NG_016608.1:g.6232C>T, NM_020184.4:c.1134C>T, NM_020184.3:c.1134C>T, XM_005263915.5:c.1134C>T, XM_005263915.4:c.1134C>T, XM_005263915.3:c.1134C>T, XM_005263915.2:c.1134C>T, XM_005263915.1:c.1134C>T, XM_005263914.5:c.1134C>T, XM_005263914.4:c.1134C>T, XM_005263914.3:c.1134C>T, XM_005263914.2:c.1134C>T, XM_005263914.1:c.1134C>T, XM_011510956.4:c.1134C>T, XM_011510956.3:c.1134C>T, XM_011510956.2:c.1134C>T, XM_011510956.1:c.1134C>T, XM_047443911.1:c.1134C>T, XM_047443912.1:c.1134C>T, XR_007071513.1:n.1232C>T

Select item 146987067212.

rs1469870672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96799561 (GRCh38)
2:97465298 (GRCh37)
Canonical SPDI:: NC_000002.12:96799560:G:A
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96799561G>A, NC_000002.11:g.97465298G>A, NG_016608.1:g.43660G>A, NM_020184.4:c.1861G>A, NM_020184.3:c.1861G>A, XM_005263915.5:c.1861G>A, XM_005263915.4:c.1861G>A, XM_005263915.3:c.1861G>A, XM_005263915.2:c.1861G>A, XM_005263915.1:c.1861G>A, XM_005263914.5:c.1861G>A, XM_005263914.4:c.1861G>A, XM_005263914.3:c.1861G>A, XM_005263914.2:c.1861G>A, XM_005263914.1:c.1861G>A, XM_017003799.2:c.322G>A, XM_017003799.1:c.322G>A, XM_047443911.1:c.1861G>A, XM_047443912.1:c.1861G>A, XR_007071513.1:n.1959G>A, NP_064569.3:p.Glu621Lys, XP_005263972.1:p.Glu621Lys, XP_005263971.1:p.Glu621Lys, XP_016859288.1:p.Glu108Lys, XP_047299867.1:p.Glu621Lys, XP_047299868.1:p.Glu621Lys

Select item 146640678113.

rs1466406781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:96761800 (GRCh38)
2:97427537 (GRCh37)
Canonical SPDI:: NC_000002.12:96761799:C:G,NC_000002.12:96761799:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96761800C>G, NC_000002.12:g.96761800C>T, NC_000002.11:g.97427537C>G, NC_000002.11:g.97427537C>T, NG_016608.1:g.5899C>G, NG_016608.1:g.5899C>T, NM_020184.4:c.801C>G, NM_020184.4:c.801C>T, NM_020184.3:c.801C>G, NM_020184.3:c.801C>T, XM_005263915.5:c.801C>G, XM_005263915.5:c.801C>T, XM_005263915.4:c.801C>G, XM_005263915.4:c.801C>T, XM_005263915.3:c.801C>G, XM_005263915.3:c.801C>T, XM_005263915.2:c.801C>G, XM_005263915.2:c.801C>T, XM_005263915.1:c.801C>G, XM_005263915.1:c.801C>T, XM_005263914.5:c.801C>G, XM_005263914.5:c.801C>T, XM_005263914.4:c.801C>G, XM_005263914.4:c.801C>T, XM_005263914.3:c.801C>G, XM_005263914.3:c.801C>T, XM_005263914.2:c.801C>G, XM_005263914.2:c.801C>T, XM_005263914.1:c.801C>G, XM_005263914.1:c.801C>T, XM_011510956.4:c.801C>G, XM_011510956.4:c.801C>T, XM_011510956.3:c.801C>G, XM_011510956.3:c.801C>T, XM_011510956.2:c.801C>G, XM_011510956.2:c.801C>T, XM_011510956.1:c.801C>G, XM_011510956.1:c.801C>T, XM_047443911.1:c.801C>G, XM_047443911.1:c.801C>T, XM_047443912.1:c.801C>G, XM_047443912.1:c.801C>T, XR_007071513.1:n.899C>G, XR_007071513.1:n.899C>T

Select item 146542213814.

rs1465422138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:96761682 (GRCh38)
2:97427419 (GRCh37)
Canonical SPDI:: NC_000002.12:96761681:A:G,NC_000002.12:96761681:A:T
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.96761682A>G, NC_000002.12:g.96761682A>T, NC_000002.11:g.97427419A>G, NC_000002.11:g.97427419A>T, NG_016608.1:g.5781A>G, NG_016608.1:g.5781A>T, NM_020184.4:c.683A>G, NM_020184.4:c.683A>T, NM_020184.3:c.683A>G, NM_020184.3:c.683A>T, XM_005263915.5:c.683A>G, XM_005263915.5:c.683A>T, XM_005263915.4:c.683A>G, XM_005263915.4:c.683A>T, XM_005263915.3:c.683A>G, XM_005263915.3:c.683A>T, XM_005263915.2:c.683A>G, XM_005263915.2:c.683A>T, XM_005263915.1:c.683A>G, XM_005263915.1:c.683A>T, XM_005263914.5:c.683A>G, XM_005263914.5:c.683A>T, XM_005263914.4:c.683A>G, XM_005263914.4:c.683A>T, XM_005263914.3:c.683A>G, XM_005263914.3:c.683A>T, XM_005263914.2:c.683A>G, XM_005263914.2:c.683A>T, XM_005263914.1:c.683A>G, XM_005263914.1:c.683A>T, XM_011510956.4:c.683A>G, XM_011510956.4:c.683A>T, XM_011510956.3:c.683A>G, XM_011510956.3:c.683A>T, XM_011510956.2:c.683A>G, XM_011510956.2:c.683A>T, XM_011510956.1:c.683A>G, XM_011510956.1:c.683A>T, XM_047443911.1:c.683A>G, XM_047443911.1:c.683A>T, XM_047443912.1:c.683A>G, XM_047443912.1:c.683A>T, XR_007071513.1:n.781A>G, XR_007071513.1:n.781A>T, NP_064569.3:p.Tyr228Cys, NP_064569.3:p.Tyr228Phe, XP_005263972.1:p.Tyr228Cys, XP_005263972.1:p.Tyr228Phe, XP_005263971.1:p.Tyr228Cys, XP_005263971.1:p.Tyr228Phe, XP_011509258.1:p.Tyr228Cys, XP_011509258.1:p.Tyr228Phe, XP_047299867.1:p.Tyr228Cys, XP_047299867.1:p.Tyr228Phe, XP_047299868.1:p.Tyr228Cys, XP_047299868.1:p.Tyr228Phe

Select item 146362270215.

rs1463622702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:96761923 (GRCh38)
2:97427660 (GRCh37)
Canonical SPDI:: NC_000002.12:96761922:C:A,NC_000002.12:96761922:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96761923C>A, NC_000002.12:g.96761923C>T, NC_000002.11:g.97427660C>A, NC_000002.11:g.97427660C>T, NG_016608.1:g.6022C>A, NG_016608.1:g.6022C>T, NM_020184.4:c.924C>A, NM_020184.4:c.924C>T, NM_020184.3:c.924C>A, NM_020184.3:c.924C>T, XM_005263915.5:c.924C>A, XM_005263915.5:c.924C>T, XM_005263915.4:c.924C>A, XM_005263915.4:c.924C>T, XM_005263915.3:c.924C>A, XM_005263915.3:c.924C>T, XM_005263915.2:c.924C>A, XM_005263915.2:c.924C>T, XM_005263915.1:c.924C>A, XM_005263915.1:c.924C>T, XM_005263914.5:c.924C>A, XM_005263914.5:c.924C>T, XM_005263914.4:c.924C>A, XM_005263914.4:c.924C>T, XM_005263914.3:c.924C>A, XM_005263914.3:c.924C>T, XM_005263914.2:c.924C>A, XM_005263914.2:c.924C>T, XM_005263914.1:c.924C>A, XM_005263914.1:c.924C>T, XM_011510956.4:c.924C>A, XM_011510956.4:c.924C>T, XM_011510956.3:c.924C>A, XM_011510956.3:c.924C>T, XM_011510956.2:c.924C>A, XM_011510956.2:c.924C>T, XM_011510956.1:c.924C>A, XM_011510956.1:c.924C>T, XM_047443911.1:c.924C>A, XM_047443911.1:c.924C>T, XM_047443912.1:c.924C>A, XM_047443912.1:c.924C>T, XR_007071513.1:n.1022C>A, XR_007071513.1:n.1022C>T, NP_064569.3:p.Phe308Leu, XP_005263972.1:p.Phe308Leu, XP_005263971.1:p.Phe308Leu, XP_011509258.1:p.Phe308Leu, XP_047299867.1:p.Phe308Leu, XP_047299868.1:p.Phe308Leu

Select item 146221827316.

rs1462218273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96762247 (GRCh38)
2:97427984 (GRCh37)
Canonical SPDI:: NC_000002.12:96762246:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96762247C>T, NC_000002.11:g.97427984C>T, NG_016608.1:g.6346C>T, NM_020184.4:c.1248C>T, NM_020184.3:c.1248C>T, XM_005263915.5:c.1248C>T, XM_005263915.4:c.1248C>T, XM_005263915.3:c.1248C>T, XM_005263915.2:c.1248C>T, XM_005263915.1:c.1248C>T, XM_005263914.5:c.1248C>T, XM_005263914.4:c.1248C>T, XM_005263914.3:c.1248C>T, XM_005263914.2:c.1248C>T, XM_005263914.1:c.1248C>T, XM_011510956.4:c.1248C>T, XM_011510956.3:c.1248C>T, XM_011510956.2:c.1248C>T, XM_011510956.1:c.1248C>T, XM_047443911.1:c.1248C>T, XM_047443912.1:c.1248C>T, XR_007071513.1:n.1346C>T

Select item 145799867117.

rs1457998671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:96761531 (GRCh38)
2:97427268 (GRCh37)
Canonical SPDI:: NC_000002.12:96761530:A:C
Gene:: CNNM4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96761531A>C, NC_000002.11:g.97427268A>C, NG_016608.1:g.5630A>C, NM_020184.4:c.532A>C, NM_020184.3:c.532A>C, XM_005263915.5:c.532A>C, XM_005263915.4:c.532A>C, XM_005263915.3:c.532A>C, XM_005263915.2:c.532A>C, XM_005263915.1:c.532A>C, XM_005263914.5:c.532A>C, XM_005263914.4:c.532A>C, XM_005263914.3:c.532A>C, XM_005263914.2:c.532A>C, XM_005263914.1:c.532A>C, XM_011510956.4:c.532A>C, XM_011510956.3:c.532A>C, XM_011510956.2:c.532A>C, XM_011510956.1:c.532A>C, XM_047443911.1:c.532A>C, XM_047443912.1:c.532A>C, XR_007071513.1:n.630A>C

Select item 145770378418.

rs1457703784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96762022 (GRCh38)
2:97427759 (GRCh37)
Canonical SPDI:: NC_000002.12:96762021:G:A
Gene:: CNNM4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.96762022G>A, NC_000002.11:g.97427759G>A, NG_016608.1:g.6121G>A, NM_020184.4:c.1023G>A, NM_020184.3:c.1023G>A, XM_005263915.5:c.1023G>A, XM_005263915.4:c.1023G>A, XM_005263915.3:c.1023G>A, XM_005263915.2:c.1023G>A, XM_005263915.1:c.1023G>A, XM_005263914.5:c.1023G>A, XM_005263914.4:c.1023G>A, XM_005263914.3:c.1023G>A, XM_005263914.2:c.1023G>A, XM_005263914.1:c.1023G>A, XM_011510956.4:c.1023G>A, XM_011510956.3:c.1023G>A, XM_011510956.2:c.1023G>A, XM_011510956.1:c.1023G>A, XM_047443911.1:c.1023G>A, XM_047443912.1:c.1023G>A, XR_007071513.1:n.1121G>A

Select item 145619587119.

rs1456195871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:96797575 (GRCh38)
2:97463312 (GRCh37)
Canonical SPDI:: NC_000002.12:96797574:G:A,NC_000002.12:96797574:G:T
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96797575G>A, NC_000002.12:g.96797575G>T, NC_000002.11:g.97463312G>A, NC_000002.11:g.97463312G>T, NG_016608.1:g.41674G>A, NG_016608.1:g.41674G>T, NM_020184.4:c.1609G>A, NM_020184.4:c.1609G>T, NM_020184.3:c.1609G>A, NM_020184.3:c.1609G>T, XM_005263915.5:c.1609G>A, XM_005263915.5:c.1609G>T, XM_005263915.4:c.1609G>A, XM_005263915.4:c.1609G>T, XM_005263915.3:c.1609G>A, XM_005263915.3:c.1609G>T, XM_005263915.2:c.1609G>A, XM_005263915.2:c.1609G>T, XM_005263915.1:c.1609G>A, XM_005263915.1:c.1609G>T, XM_005263914.5:c.1609G>A, XM_005263914.5:c.1609G>T, XM_005263914.4:c.1609G>A, XM_005263914.4:c.1609G>T, XM_005263914.3:c.1609G>A, XM_005263914.3:c.1609G>T, XM_005263914.2:c.1609G>A, XM_005263914.2:c.1609G>T, XM_005263914.1:c.1609G>A, XM_005263914.1:c.1609G>T, XM_017003799.2:c.70G>A, XM_017003799.2:c.70G>T, XM_017003799.1:c.70G>A, XM_017003799.1:c.70G>T, XM_047443911.1:c.1609G>A, XM_047443911.1:c.1609G>T, XM_047443912.1:c.1609G>A, XM_047443912.1:c.1609G>T, XR_007071513.1:n.1707G>A, XR_007071513.1:n.1707G>T, NP_064569.3:p.Asp537Asn, NP_064569.3:p.Asp537Tyr, XP_005263972.1:p.Asp537Asn, XP_005263972.1:p.Asp537Tyr, XP_005263971.1:p.Asp537Asn, XP_005263971.1:p.Asp537Tyr, XP_016859288.1:p.Asp24Asn, XP_016859288.1:p.Asp24Tyr, XP_047299867.1:p.Asp537Asn, XP_047299867.1:p.Asp537Tyr, XP_047299868.1:p.Asp537Asn, XP_047299868.1:p.Asp537Tyr

Select item 145547013120.

rs1455470131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96797521 (GRCh38)
2:97463258 (GRCh37)
Canonical SPDI:: NC_000002.12:96797520:C:T
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Clinical significance:: pathogenic
HGVS:: NC_000002.12:g.96797521C>T, NC_000002.11:g.97463258C>T, NG_016608.1:g.41620C>T, NM_020184.4:c.1555C>T, NM_020184.3:c.1555C>T, XM_005263915.5:c.1555C>T, XM_005263915.4:c.1555C>T, XM_005263915.3:c.1555C>T, XM_005263915.2:c.1555C>T, XM_005263915.1:c.1555C>T, XM_005263914.5:c.1555C>T, XM_005263914.4:c.1555C>T, XM_005263914.3:c.1555C>T, XM_005263914.2:c.1555C>T, XM_005263914.1:c.1555C>T, XM_017003799.2:c.16C>T, XM_017003799.1:c.16C>T, XM_047443911.1:c.1555C>T, XM_047443912.1:c.1555C>T, XR_007071513.1:n.1653C>T, NP_064569.3:p.Arg519Ter, XP_005263972.1:p.Arg519Ter, XP_005263971.1:p.Arg519Ter, XP_016859288.1:p.Arg6Ter, XP_047299867.1:p.Arg519Ter, XP_047299868.1:p.Arg519Ter

<< First< Prev

Page of 37

Next >Last >>

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 731

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity