SNP Links for Protein (Select 472339087) - SNP

Links from Protein

Items: 1 to 20 of 739

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Select item 14901442251.

rs1490144225 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:12125949 (GRCh38)
18:12125949 (GRCh37)
Canonical SPDI:: NC_000018.10:12125949:A:AA
Gene:: ANKRD62 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12125950dup, NC_000018.9:g.12125949dup, NM_001277333.2:c.2129dup, NM_001277333.1:c.2129dup, XR_001753188.2:n.2304dup, XR_001753188.1:n.2351dup, NP_001264262.1:p.Ser711fs

Select item 14898490552.

rs1489849055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12126039 (GRCh38)
18:12126038 (GRCh37)
Canonical SPDI:: NC_000018.10:12126038:G:A
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12126039G>A, NC_000018.9:g.12126038G>A, NM_001277333.2:c.2218G>A, NM_001277333.1:c.2218G>A, XR_001753188.2:n.2393G>A, XR_001753188.1:n.2440G>A, NP_001264262.1:p.Val740Ile

Select item 14897192883.

rs1489719288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12122504 (GRCh38)
18:12122503 (GRCh37)
Canonical SPDI:: NC_000018.10:12122503:T:C
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12122504T>C, NC_000018.9:g.12122503T>C, NM_001277333.2:c.1442T>C, NM_001277333.1:c.1442T>C, XR_001753188.2:n.1617T>C, XR_001753188.1:n.1664T>C, NP_001264262.1:p.Leu481Pro

Select item 14893855884.

rs1489385588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:12125572 (GRCh38)
18:12125571 (GRCh37)
Canonical SPDI:: NC_000018.10:12125571:A:T
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12125572A>T, NC_000018.9:g.12125571A>T, NM_001277333.2:c.1751A>T, NM_001277333.1:c.1751A>T, XR_001753188.2:n.1926A>T, XR_001753188.1:n.1973A>T, NP_001264262.1:p.Glu584Val

Select item 14890596975.

rs1489059697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12127799 (GRCh38)
18:12127798 (GRCh37)
Canonical SPDI:: NC_000018.10:12127798:T:C
Gene:: ANKRD62 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.12127799T>C, NC_000018.9:g.12127798T>C, NM_001277333.2:c.2614T>C, NM_001277333.1:c.2614T>C, XR_001753188.2:n.2789T>C, XR_001753188.1:n.2836T>C

Select item 14868463526.

rs1486846352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:12103163 (GRCh38)
18:12103162 (GRCh37)
Canonical SPDI:: NC_000018.10:12103162:G:T
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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.12103163G>T, NC_000018.9:g.12103162G>T, NM_001277333.2:c.826G>T, NM_001277333.1:c.826G>T, XR_001753188.2:n.1001G>T, XR_001753188.1:n.1048G>T, NP_001264262.1:p.Asp276Tyr

Select item 14853494997.

rs1485349499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12095256 (GRCh38)
18:12095255 (GRCh37)
Canonical SPDI:: NC_000018.10:12095255:G:A
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12095256G>A, NC_000018.9:g.12095255G>A, NM_001277333.2:c.304G>A, NM_001277333.1:c.304G>A, XR_001753188.2:n.479G>A, XR_001753188.1:n.526G>A, NP_001264262.1:p.Asp102Asn

Select item 14847967888.

rs1484796788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:12094152 (GRCh38)
18:12094151 (GRCh37)
Canonical SPDI:: NC_000018.10:12094151:T:A
Gene:: ANKRD62 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12094152T>A, NC_000018.9:g.12094151T>A, NM_001277333.2:c.135T>A, NM_001277333.1:c.135T>A, XR_001753188.2:n.310T>A, XR_001753188.1:n.357T>A

Select item 14831633919.

rs1483163391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12095456 (GRCh38)
18:12095455 (GRCh37)
Canonical SPDI:: NC_000018.10:12095455:A:G
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.12095456A>G, NC_000018.9:g.12095455A>G, NM_001277333.2:c.353A>G, NM_001277333.1:c.353A>G, XR_001753188.2:n.528A>G, XR_001753188.1:n.575A>G, NP_001264262.1:p.Glu118Gly

Select item 148306660710.

rs1483066607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:12126300 (GRCh38)
18:12126299 (GRCh37)
Canonical SPDI:: NC_000018.10:12126299:G:A,NC_000018.10:12126299:G:C,NC_000018.10:12126299:G:T
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.12126300G>A, NC_000018.10:g.12126300G>C, NC_000018.10:g.12126300G>T, NC_000018.9:g.12126299G>A, NC_000018.9:g.12126299G>C, NC_000018.9:g.12126299G>T, NM_001277333.2:c.2479G>A, NM_001277333.2:c.2479G>C, NM_001277333.2:c.2479G>T, NM_001277333.1:c.2479G>A, NM_001277333.1:c.2479G>C, NM_001277333.1:c.2479G>T, XR_001753188.2:n.2654G>A, XR_001753188.2:n.2654G>C, XR_001753188.2:n.2654G>T, XR_001753188.1:n.2701G>A, XR_001753188.1:n.2701G>C, XR_001753188.1:n.2701G>T, NP_001264262.1:p.Glu827Lys, NP_001264262.1:p.Glu827Gln, NP_001264262.1:p.Glu827Ter

Select item 148288443211.

rs1482884432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:12094035 (GRCh38)
18:12094034 (GRCh37)
Canonical SPDI:: NC_000018.10:12094034:G:T
Gene:: ANKRD62 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.12094035G>T, NC_000018.9:g.12094034G>T, NM_001277333.2:c.18G>T, NM_001277333.1:c.18G>T, XR_001753188.2:n.193G>T, XR_001753188.1:n.240G>T

Select item 148152464812.

rs1481524648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12094138 (GRCh38)
18:12094137 (GRCh37)
Canonical SPDI:: NC_000018.10:12094137:A:G
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12094138A>G, NC_000018.9:g.12094137A>G, NM_001277333.2:c.121A>G, NM_001277333.1:c.121A>G, XR_001753188.2:n.296A>G, XR_001753188.1:n.343A>G, NP_001264262.1:p.Met41Val

Select item 148116009813.

rs1481160098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:12124265 (GRCh38)
18:12124264 (GRCh37)
Canonical SPDI:: NC_000018.10:12124264:T:G
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.12124265T>G, NC_000018.9:g.12124264T>G, NM_001277333.2:c.1583T>G, NM_001277333.1:c.1583T>G, XR_001753188.2:n.1758T>G, XR_001753188.1:n.1805T>G, NP_001264262.1:p.Leu528Arg

Select item 148101667414.

rs1481016674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:12125504 (GRCh38)
18:12125503 (GRCh37)
Canonical SPDI:: NC_000018.10:12125503:T:A
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0093/17 (Korea1K)
HGVS:: NC_000018.10:g.12125504T>A, NC_000018.9:g.12125503T>A, NM_001277333.2:c.1683T>A, NM_001277333.1:c.1683T>A, XR_001753188.2:n.1858T>A, XR_001753188.1:n.1905T>A, NP_001264262.1:p.Asn561Lys

Select item 148059505415.

rs1480595054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12115446 (GRCh38)
18:12115445 (GRCh37)
Canonical SPDI:: NC_000018.10:12115445:T:C
Gene:: ANKRD62 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12115446T>C, NC_000018.9:g.12115445T>C, NM_001277333.2:c.1152T>C, NM_001277333.1:c.1152T>C, XR_001753188.2:n.1327T>C, XR_001753188.1:n.1374T>C

Select item 147938342216.

rs1479383422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12125932 (GRCh38)
18:12125931 (GRCh37)
Canonical SPDI:: NC_000018.10:12125931:A:G
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12125932A>G, NC_000018.9:g.12125931A>G, NM_001277333.2:c.2111A>G, NM_001277333.1:c.2111A>G, XR_001753188.2:n.2286A>G, XR_001753188.1:n.2333A>G, NP_001264262.1:p.Gln704Arg

Select item 147936393017.

rs1479363930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:12122418 (GRCh38)
18:12122417 (GRCh37)
Canonical SPDI:: NC_000018.10:12122417:T:C
Gene:: ANKRD62 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12122418T>C, NC_000018.9:g.12122417T>C, NM_001277333.2:c.1356T>C, NM_001277333.1:c.1356T>C, XR_001753188.2:n.1531T>C, XR_001753188.1:n.1578T>C

Select item 147904882218.

rs1479048822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:12126328 (GRCh38)
18:12126327 (GRCh37)
Canonical SPDI:: NC_000018.10:12126327:G:A,NC_000018.10:12126327:G:T
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000895/4 (ALFA)
T=0.000008/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.12126328G>A, NC_000018.10:g.12126328G>T, NC_000018.9:g.12126327G>A, NC_000018.9:g.12126327G>T, NM_001277333.2:c.2507G>A, NM_001277333.2:c.2507G>T, NM_001277333.1:c.2507G>A, NM_001277333.1:c.2507G>T, XR_001753188.2:n.2682G>A, XR_001753188.2:n.2682G>T, XR_001753188.1:n.2729G>A, XR_001753188.1:n.2729G>T, NP_001264262.1:p.Cys836Tyr, NP_001264262.1:p.Cys836Phe

Select item 147902774019.

rs1479027740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12125495 (GRCh38)
18:12125494 (GRCh37)
Canonical SPDI:: NC_000018.10:12125494:G:A
Gene:: ANKRD62 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12125495G>A, NC_000018.9:g.12125494G>A, NM_001277333.2:c.1674G>A, NM_001277333.1:c.1674G>A, XR_001753188.2:n.1849G>A, XR_001753188.1:n.1896G>A, NP_001264262.1:p.Trp558Ter

Select item 147886607020.

rs1478866070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12126055 (GRCh38)
18:12126054 (GRCh37)
Canonical SPDI:: NC_000018.10:12126054:A:G
Gene:: ANKRD62 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12126055A>G, NC_000018.9:g.12126054A>G, NM_001277333.2:c.2234A>G, NM_001277333.1:c.2234A>G, XR_001753188.2:n.2409A>G, XR_001753188.1:n.2456A>G, NP_001264262.1:p.Gln745Arg

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