SNP Links for Protein (Select 767971876) - SNP

Links from Protein

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Select item 14906488341.

rs1490648834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29464513 (GRCh38)
12:29617446 (GRCh37)
Canonical SPDI:: NC_000012.12:29464512:T:G
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464513T>G, NC_000012.11:g.29617446T>G, XM_011520640.3:c.2224A>C, XM_011520640.2:c.2224A>C, XM_011520640.1:c.2224A>C, XM_011520638.3:c.2224A>C, XM_011520638.2:c.2224A>C, XM_011520638.1:c.2224A>C, XM_011520641.3:c.2224A>C, XM_011520641.2:c.2224A>C, XM_011520641.1:c.2224A>C, XM_024448968.2:c.2224A>C, XM_024448968.1:c.2224A>C, XM_017019256.2:c.2224A>C, XM_017019256.1:c.2224A>C, NM_001353179.2:c.2224A>C, NM_001353179.1:c.2224A>C, NM_183378.2:c.2119A>C, XM_047428780.1:c.922A>C, XM_047428777.1:c.2224A>C, XM_047428778.1:c.2224A>C, XM_047428779.1:c.2224A>C, NR_073170.1:n.870T>G, NR_073171.1:n.808T>G, XP_011518942.1:p.Ser742Arg, XP_011518940.1:p.Ser742Arg, XP_011518943.1:p.Ser742Arg, XP_024304736.1:p.Ser742Arg, XP_016874745.1:p.Ser742Arg, NP_001340108.1:p.Ser742Arg, XP_047284736.1:p.Ser308Arg, XP_047284733.1:p.Ser742Arg, XP_047284734.1:p.Ser742Arg, XP_047284735.1:p.Ser742Arg

Select item 14901574462.

rs1490157446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29461869 (GRCh38)
12:29614802 (GRCh37)
Canonical SPDI:: NC_000012.12:29461868:C:T
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29461869C>T, NC_000012.11:g.29614802C>T, XM_011520640.3:c.2370G>A, XM_011520640.2:c.2370G>A, XM_011520640.1:c.2370G>A, XM_011520638.3:c.2370G>A, XM_011520638.2:c.2370G>A, XM_011520638.1:c.2370G>A, XM_011520641.3:c.2370G>A, XM_011520641.2:c.2370G>A, XM_011520641.1:c.2370G>A, XM_024448968.2:c.2370G>A, XM_024448968.1:c.2370G>A, XM_017019256.2:c.2370G>A, XM_017019256.1:c.2370G>A, NM_001353179.2:c.2370G>A, NM_001353179.1:c.2370G>A, NM_183378.2:c.2265G>A, XM_047428780.1:c.1068G>A, XM_047428777.1:c.2370G>A, XM_047428778.1:c.2370G>A, XM_047428779.1:c.2370G>A, NR_073170.1:n.696C>T, NR_073171.1:n.634C>T

Select item 14880952753.

rs1488095275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:29477132 (GRCh38)
12:29630065 (GRCh37)
Canonical SPDI:: NC_000012.12:29477131:G:T
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.29477132G>T, NC_000012.11:g.29630065G>T, XM_011520640.3:c.1452C>A, XM_011520640.2:c.1452C>A, XM_011520640.1:c.1452C>A, XM_011520638.3:c.1452C>A, XM_011520638.2:c.1452C>A, XM_011520638.1:c.1452C>A, XM_011520641.3:c.1452C>A, XM_011520641.2:c.1452C>A, XM_011520641.1:c.1452C>A, XM_011520642.3:c.1452C>A, XM_011520642.2:c.1452C>A, XM_011520642.1:c.1452C>A, XM_024448968.2:c.1452C>A, XM_024448968.1:c.1452C>A, XM_017019256.2:c.1452C>A, XM_017019256.1:c.1452C>A, NM_001353179.2:c.1452C>A, NM_001353179.1:c.1452C>A, NM_183378.2:c.1347C>A, XM_024448969.2:c.1452C>A, XM_024448969.1:c.1452C>A, XM_047428777.1:c.1452C>A, XM_047428778.1:c.1452C>A, XM_047428779.1:c.1452C>A, XM_047428781.1:c.1452C>A, XP_011518942.1:p.Phe484Leu, XP_011518940.1:p.Phe484Leu, XP_011518943.1:p.Phe484Leu, XP_011518944.1:p.Phe484Leu, XP_024304736.1:p.Phe484Leu, XP_016874745.1:p.Phe484Leu, NP_001340108.1:p.Phe484Leu, XP_024304737.1:p.Phe484Leu, XP_047284733.1:p.Phe484Leu, XP_047284734.1:p.Phe484Leu, XP_047284735.1:p.Phe484Leu, XP_047284737.1:p.Phe484Leu

Select item 14876065584.

rs1487606558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29465169 (GRCh38)
12:29618102 (GRCh37)
Canonical SPDI:: NC_000012.12:29465168:T:C
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29465169T>C, NC_000012.11:g.29618102T>C, XM_011520640.3:c.2012A>G, XM_011520640.2:c.2012A>G, XM_011520640.1:c.2012A>G, XM_011520638.3:c.2012A>G, XM_011520638.2:c.2012A>G, XM_011520638.1:c.2012A>G, XM_011520641.3:c.2012A>G, XM_011520641.2:c.2012A>G, XM_011520641.1:c.2012A>G, XM_011520642.3:c.2012A>G, XM_011520642.2:c.2012A>G, XM_011520642.1:c.2012A>G, XM_024448968.2:c.2012A>G, XM_024448968.1:c.2012A>G, XM_017019256.2:c.2012A>G, XM_017019256.1:c.2012A>G, NM_001353179.2:c.2012A>G, NM_001353179.1:c.2012A>G, NM_183378.2:c.1907A>G, XM_047428780.1:c.710A>G, XM_047428777.1:c.2012A>G, XM_047428778.1:c.2012A>G, XM_047428779.1:c.2012A>G, XP_011518942.1:p.Asn671Ser, XP_011518940.1:p.Asn671Ser, XP_011518943.1:p.Asn671Ser, XP_011518944.1:p.Asn671Ser, XP_024304736.1:p.Asn671Ser, XP_016874745.1:p.Asn671Ser, NP_001340108.1:p.Asn671Ser, XP_047284736.1:p.Asn237Ser, XP_047284733.1:p.Asn671Ser, XP_047284734.1:p.Asn671Ser, XP_047284735.1:p.Asn671Ser

Select item 14873954375.

rs1487395437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:29497665 (GRCh38)
12:29650598 (GRCh37)
Canonical SPDI:: NC_000012.12:29497664:C:A
Gene:: OVCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.29497665C>A, NC_000012.11:g.29650598C>A, XM_011520640.3:c.22G>T, XM_011520640.2:c.22G>T, XM_011520640.1:c.22G>T, XM_011520638.3:c.22G>T, XM_011520638.2:c.22G>T, XM_011520638.1:c.22G>T, XM_011520641.3:c.22G>T, XM_011520641.2:c.22G>T, XM_011520641.1:c.22G>T, XM_011520642.3:c.22G>T, XM_011520642.2:c.22G>T, XM_011520642.1:c.22G>T, XM_024448968.2:c.22G>T, XM_024448968.1:c.22G>T, XM_017019256.2:c.22G>T, XM_017019256.1:c.22G>T, NM_001353179.2:c.22G>T, NM_001353179.1:c.22G>T, NM_183378.2:c.22G>T, XM_024448969.2:c.22G>T, XM_024448969.1:c.22G>T, XM_047428777.1:c.22G>T, XM_047428778.1:c.22G>T, XM_047428779.1:c.22G>T, XM_047428781.1:c.22G>T, XP_011518942.1:p.Gly8Cys, XP_011518940.1:p.Gly8Cys, XP_011518943.1:p.Gly8Cys, XP_011518944.1:p.Gly8Cys, XP_024304736.1:p.Gly8Cys, XP_016874745.1:p.Gly8Cys, NP_001340108.1:p.Gly8Cys, XP_024304737.1:p.Gly8Cys, XP_047284733.1:p.Gly8Cys, XP_047284734.1:p.Gly8Cys, XP_047284735.1:p.Gly8Cys, XP_047284737.1:p.Gly8Cys

Select item 14857903266.

rs1485790326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29491189 (GRCh38)
12:29644122 (GRCh37)
Canonical SPDI:: NC_000012.12:29491188:T:G
Gene:: OVCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29491189T>G, NC_000012.11:g.29644122T>G, XM_011520640.3:c.458A>C, XM_011520640.2:c.458A>C, XM_011520640.1:c.458A>C, XM_011520638.3:c.458A>C, XM_011520638.2:c.458A>C, XM_011520638.1:c.458A>C, XM_011520641.3:c.458A>C, XM_011520641.2:c.458A>C, XM_011520641.1:c.458A>C, XM_011520642.3:c.458A>C, XM_011520642.2:c.458A>C, XM_011520642.1:c.458A>C, XM_024448968.2:c.458A>C, XM_024448968.1:c.458A>C, XM_017019256.2:c.458A>C, XM_017019256.1:c.458A>C, NM_001353179.2:c.458A>C, NM_001353179.1:c.458A>C, NM_183378.2:c.458A>C, XM_024448969.2:c.458A>C, XM_024448969.1:c.458A>C, XM_047428777.1:c.458A>C, XM_047428778.1:c.458A>C, XM_047428779.1:c.458A>C, XM_047428781.1:c.458A>C, XP_011518942.1:p.Asn153Thr, XP_011518940.1:p.Asn153Thr, XP_011518943.1:p.Asn153Thr, XP_011518944.1:p.Asn153Thr, XP_024304736.1:p.Asn153Thr, XP_016874745.1:p.Asn153Thr, NP_001340108.1:p.Asn153Thr, XP_024304737.1:p.Asn153Thr, XP_047284733.1:p.Asn153Thr, XP_047284734.1:p.Asn153Thr, XP_047284735.1:p.Asn153Thr, XP_047284737.1:p.Asn153Thr

Select item 14852015187.

rs1485201518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29487701 (GRCh38)
12:29640634 (GRCh37)
Canonical SPDI:: NC_000012.12:29487700:A:G
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.29487701A>G, NC_000012.11:g.29640634A>G, XM_011520640.3:c.884T>C, XM_011520640.2:c.884T>C, XM_011520640.1:c.884T>C, XM_011520638.3:c.884T>C, XM_011520638.2:c.884T>C, XM_011520638.1:c.884T>C, XM_011520641.3:c.884T>C, XM_011520641.2:c.884T>C, XM_011520641.1:c.884T>C, XM_011520642.3:c.884T>C, XM_011520642.2:c.884T>C, XM_011520642.1:c.884T>C, XM_024448968.2:c.884T>C, XM_024448968.1:c.884T>C, XM_017019256.2:c.884T>C, XM_017019256.1:c.884T>C, NM_001353179.2:c.884T>C, NM_001353179.1:c.884T>C, NM_183378.2:c.884T>C, XM_024448969.2:c.884T>C, XM_024448969.1:c.884T>C, XM_047428777.1:c.884T>C, XM_047428778.1:c.884T>C, XM_047428779.1:c.884T>C, XM_047428781.1:c.884T>C, XP_011518942.1:p.Leu295Pro, XP_011518940.1:p.Leu295Pro, XP_011518943.1:p.Leu295Pro, XP_011518944.1:p.Leu295Pro, XP_024304736.1:p.Leu295Pro, XP_016874745.1:p.Leu295Pro, NP_001340108.1:p.Leu295Pro, XP_024304737.1:p.Leu295Pro, XP_047284733.1:p.Leu295Pro, XP_047284734.1:p.Leu295Pro, XP_047284735.1:p.Leu295Pro, XP_047284737.1:p.Leu295Pro

Select item 14848114888.

rs1484811488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:29489652 (GRCh38)
12:29642585 (GRCh37)
Canonical SPDI:: NC_000012.12:29489651:C:G,NC_000012.12:29489651:C:T
Gene:: OVCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29489652C>G, NC_000012.12:g.29489652C>T, NC_000012.11:g.29642585C>G, NC_000012.11:g.29642585C>T, XM_011520640.3:c.670G>C, XM_011520640.3:c.670G>A, XM_011520640.2:c.670G>C, XM_011520640.2:c.670G>A, XM_011520640.1:c.670G>C, XM_011520640.1:c.670G>A, XM_011520638.3:c.670G>C, XM_011520638.3:c.670G>A, XM_011520638.2:c.670G>C, XM_011520638.2:c.670G>A, XM_011520638.1:c.670G>C, XM_011520638.1:c.670G>A, XM_011520641.3:c.670G>C, XM_011520641.3:c.670G>A, XM_011520641.2:c.670G>C, XM_011520641.2:c.670G>A, XM_011520641.1:c.670G>C, XM_011520641.1:c.670G>A, XM_011520642.3:c.670G>C, XM_011520642.3:c.670G>A, XM_011520642.2:c.670G>C, XM_011520642.2:c.670G>A, XM_011520642.1:c.670G>C, XM_011520642.1:c.670G>A, XM_024448968.2:c.670G>C, XM_024448968.2:c.670G>A, XM_024448968.1:c.670G>C, XM_024448968.1:c.670G>A, XM_017019256.2:c.670G>C, XM_017019256.2:c.670G>A, XM_017019256.1:c.670G>C, XM_017019256.1:c.670G>A, NM_001353179.2:c.670G>C, NM_001353179.2:c.670G>A, NM_001353179.1:c.670G>C, NM_001353179.1:c.670G>A, NM_183378.2:c.670G>C, NM_183378.2:c.670G>A, XM_024448969.2:c.670G>C, XM_024448969.2:c.670G>A, XM_024448969.1:c.670G>C, XM_024448969.1:c.670G>A, XM_047428777.1:c.670G>C, XM_047428777.1:c.670G>A, XM_047428778.1:c.670G>C, XM_047428778.1:c.670G>A, XM_047428779.1:c.670G>C, XM_047428779.1:c.670G>A, XM_047428781.1:c.670G>C, XM_047428781.1:c.670G>A, XP_011518942.1:p.Gly224Arg, XP_011518942.1:p.Gly224Ser, XP_011518940.1:p.Gly224Arg, XP_011518940.1:p.Gly224Ser, XP_011518943.1:p.Gly224Arg, XP_011518943.1:p.Gly224Ser, XP_011518944.1:p.Gly224Arg, XP_011518944.1:p.Gly224Ser, XP_024304736.1:p.Gly224Arg, XP_024304736.1:p.Gly224Ser, XP_016874745.1:p.Gly224Arg, XP_016874745.1:p.Gly224Ser, NP_001340108.1:p.Gly224Arg, NP_001340108.1:p.Gly224Ser, XP_024304737.1:p.Gly224Arg, XP_024304737.1:p.Gly224Ser, XP_047284733.1:p.Gly224Arg, XP_047284733.1:p.Gly224Ser, XP_047284734.1:p.Gly224Arg, XP_047284734.1:p.Gly224Ser, XP_047284735.1:p.Gly224Arg, XP_047284735.1:p.Gly224Ser, XP_047284737.1:p.Gly224Arg, XP_047284737.1:p.Gly224Ser

Select item 14834799199.

rs1483479919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:29477359 (GRCh38)
12:29630292 (GRCh37)
Canonical SPDI:: NC_000012.12:29477358:C:A,NC_000012.12:29477358:C:G,NC_000012.12:29477358:C:T
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.29477359C>A, NC_000012.12:g.29477359C>G, NC_000012.12:g.29477359C>T, NC_000012.11:g.29630292C>A, NC_000012.11:g.29630292C>G, NC_000012.11:g.29630292C>T, XM_011520640.3:c.1333G>T, XM_011520640.3:c.1333G>C, XM_011520640.3:c.1333G>A, XM_011520640.2:c.1333G>T, XM_011520640.2:c.1333G>C, XM_011520640.2:c.1333G>A, XM_011520640.1:c.1333G>T, XM_011520640.1:c.1333G>C, XM_011520640.1:c.1333G>A, XM_011520638.3:c.1333G>T, XM_011520638.3:c.1333G>C, XM_011520638.3:c.1333G>A, XM_011520638.2:c.1333G>T, XM_011520638.2:c.1333G>C, XM_011520638.2:c.1333G>A, XM_011520638.1:c.1333G>T, XM_011520638.1:c.1333G>C, XM_011520638.1:c.1333G>A, XM_011520641.3:c.1333G>T, XM_011520641.3:c.1333G>C, XM_011520641.3:c.1333G>A, XM_011520641.2:c.1333G>T, XM_011520641.2:c.1333G>C, XM_011520641.2:c.1333G>A, XM_011520641.1:c.1333G>T, XM_011520641.1:c.1333G>C, XM_011520641.1:c.1333G>A, XM_011520642.3:c.1333G>T, XM_011520642.3:c.1333G>C, XM_011520642.3:c.1333G>A, XM_011520642.2:c.1333G>T, XM_011520642.2:c.1333G>C, XM_011520642.2:c.1333G>A, XM_011520642.1:c.1333G>T, XM_011520642.1:c.1333G>C, XM_011520642.1:c.1333G>A, XM_024448968.2:c.1333G>T, XM_024448968.2:c.1333G>C, XM_024448968.2:c.1333G>A, XM_024448968.1:c.1333G>T, XM_024448968.1:c.1333G>C, XM_024448968.1:c.1333G>A, XM_017019256.2:c.1333G>T, XM_017019256.2:c.1333G>C, XM_017019256.2:c.1333G>A, XM_017019256.1:c.1333G>T, XM_017019256.1:c.1333G>C, XM_017019256.1:c.1333G>A, NM_001353179.2:c.1333G>T, NM_001353179.2:c.1333G>C, NM_001353179.2:c.1333G>A, NM_001353179.1:c.1333G>T, NM_001353179.1:c.1333G>C, NM_001353179.1:c.1333G>A, NM_183378.2:c.1228G>T, NM_183378.2:c.1228G>C, NM_183378.2:c.1228G>A, XM_024448969.2:c.1333G>T, XM_024448969.2:c.1333G>C, XM_024448969.2:c.1333G>A, XM_024448969.1:c.1333G>T, XM_024448969.1:c.1333G>C, XM_024448969.1:c.1333G>A, XM_047428780.1:c.162G>T, XM_047428780.1:c.162G>C, XM_047428780.1:c.162G>A, XM_047428777.1:c.1333G>T, XM_047428777.1:c.1333G>C, XM_047428777.1:c.1333G>A, XM_047428778.1:c.1333G>T, XM_047428778.1:c.1333G>C, XM_047428778.1:c.1333G>A, XM_047428779.1:c.1333G>T, XM_047428779.1:c.1333G>C, XM_047428779.1:c.1333G>A, XM_047428781.1:c.1333G>T, XM_047428781.1:c.1333G>C, XM_047428781.1:c.1333G>A, XP_011518942.1:p.Val445Leu, XP_011518942.1:p.Val445Leu, XP_011518942.1:p.Val445Ile, XP_011518940.1:p.Val445Leu, XP_011518940.1:p.Val445Leu, XP_011518940.1:p.Val445Ile, XP_011518943.1:p.Val445Leu, XP_011518943.1:p.Val445Leu, XP_011518943.1:p.Val445Ile, XP_011518944.1:p.Val445Leu, XP_011518944.1:p.Val445Leu, XP_011518944.1:p.Val445Ile, XP_024304736.1:p.Val445Leu, XP_024304736.1:p.Val445Leu, XP_024304736.1:p.Val445Ile, XP_016874745.1:p.Val445Leu, XP_016874745.1:p.Val445Leu, XP_016874745.1:p.Val445Ile, NP_001340108.1:p.Val445Leu, NP_001340108.1:p.Val445Leu, NP_001340108.1:p.Val445Ile, XP_024304737.1:p.Val445Leu, XP_024304737.1:p.Val445Leu, XP_024304737.1:p.Val445Ile, XP_047284733.1:p.Val445Leu, XP_047284733.1:p.Val445Leu, XP_047284733.1:p.Val445Ile, XP_047284734.1:p.Val445Leu, XP_047284734.1:p.Val445Leu, XP_047284734.1:p.Val445Ile, XP_047284735.1:p.Val445Leu, XP_047284735.1:p.Val445Leu, XP_047284735.1:p.Val445Ile, XP_047284737.1:p.Val445Leu, XP_047284737.1:p.Val445Leu, XP_047284737.1:p.Val445Ile

Select item 148254676710.

rs1482546767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:29491105 (GRCh38)
12:29644038 (GRCh37)
Canonical SPDI:: NC_000012.12:29491104:A:T
Gene:: OVCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29491105A>T, NC_000012.11:g.29644038A>T, XM_011520640.3:c.542T>A, XM_011520640.2:c.542T>A, XM_011520640.1:c.542T>A, XM_011520638.3:c.542T>A, XM_011520638.2:c.542T>A, XM_011520638.1:c.542T>A, XM_011520641.3:c.542T>A, XM_011520641.2:c.542T>A, XM_011520641.1:c.542T>A, XM_011520642.3:c.542T>A, XM_011520642.2:c.542T>A, XM_011520642.1:c.542T>A, XM_024448968.2:c.542T>A, XM_024448968.1:c.542T>A, XM_017019256.2:c.542T>A, XM_017019256.1:c.542T>A, NM_001353179.2:c.542T>A, NM_001353179.1:c.542T>A, NM_183378.2:c.542T>A, XM_024448969.2:c.542T>A, XM_024448969.1:c.542T>A, XM_047428777.1:c.542T>A, XM_047428778.1:c.542T>A, XM_047428779.1:c.542T>A, XM_047428781.1:c.542T>A, XP_011518942.1:p.Ile181Asn, XP_011518940.1:p.Ile181Asn, XP_011518943.1:p.Ile181Asn, XP_011518944.1:p.Ile181Asn, XP_024304736.1:p.Ile181Asn, XP_016874745.1:p.Ile181Asn, NP_001340108.1:p.Ile181Asn, XP_024304737.1:p.Ile181Asn, XP_047284733.1:p.Ile181Asn, XP_047284734.1:p.Ile181Asn, XP_047284735.1:p.Ile181Asn, XP_047284737.1:p.Ile181Asn

Select item 148244374611.

rs1482443746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29496598 (GRCh38)
12:29649531 (GRCh37)
Canonical SPDI:: NC_000012.12:29496597:A:G
Gene:: OVCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29496598A>G, NC_000012.11:g.29649531A>G, XM_011520640.3:c.141T>C, XM_011520640.2:c.141T>C, XM_011520640.1:c.141T>C, XM_011520638.3:c.141T>C, XM_011520638.2:c.141T>C, XM_011520638.1:c.141T>C, XM_011520641.3:c.141T>C, XM_011520641.2:c.141T>C, XM_011520641.1:c.141T>C, XM_011520642.3:c.141T>C, XM_011520642.2:c.141T>C, XM_011520642.1:c.141T>C, XM_024448968.2:c.141T>C, XM_024448968.1:c.141T>C, XM_017019256.2:c.141T>C, XM_017019256.1:c.141T>C, NM_001353179.2:c.141T>C, NM_001353179.1:c.141T>C, NM_183378.2:c.141T>C, XM_024448969.2:c.141T>C, XM_024448969.1:c.141T>C, XM_047428777.1:c.141T>C, XM_047428778.1:c.141T>C, XM_047428779.1:c.141T>C, XM_047428781.1:c.141T>C

Select item 148078727512.

rs1480787275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:29489624 (GRCh38)
12:29642557 (GRCh37)
Canonical SPDI:: NC_000012.12:29489623:C:A
Gene:: OVCH1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29489624C>A, NC_000012.11:g.29642557C>A, XM_011520640.3:c.698G>T, XM_011520640.2:c.698G>T, XM_011520640.1:c.698G>T, XM_011520638.3:c.698G>T, XM_011520638.2:c.698G>T, XM_011520638.1:c.698G>T, XM_011520641.3:c.698G>T, XM_011520641.2:c.698G>T, XM_011520641.1:c.698G>T, XM_011520642.3:c.698G>T, XM_011520642.2:c.698G>T, XM_011520642.1:c.698G>T, XM_024448968.2:c.698G>T, XM_024448968.1:c.698G>T, XM_017019256.2:c.698G>T, XM_017019256.1:c.698G>T, NM_001353179.2:c.698G>T, NM_001353179.1:c.698G>T, NM_183378.2:c.698G>T, XM_024448969.2:c.698G>T, XM_024448969.1:c.698G>T, XM_047428777.1:c.698G>T, XM_047428778.1:c.698G>T, XM_047428779.1:c.698G>T, XM_047428781.1:c.698G>T, XP_011518942.1:p.Cys233Phe, XP_011518940.1:p.Cys233Phe, XP_011518943.1:p.Cys233Phe, XP_011518944.1:p.Cys233Phe, XP_024304736.1:p.Cys233Phe, XP_016874745.1:p.Cys233Phe, NP_001340108.1:p.Cys233Phe, XP_024304737.1:p.Cys233Phe, XP_047284733.1:p.Cys233Phe, XP_047284734.1:p.Cys233Phe, XP_047284735.1:p.Cys233Phe, XP_047284737.1:p.Cys233Phe

Select item 147851128913.

rs1478511289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:29460299 (GRCh38)
12:29613233 (GRCh37)
Canonical SPDI:: NC_000012.12:29460299:A:AA
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: stop_lost,frameshift_variant,genic_downstream_transcript_variant,terminator_codon_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.29460300dup, NC_000012.11:g.29613233dup, XM_011520640.3:c.2440dup, XM_011520640.2:c.2440dup, XM_011520640.1:c.2440dup, XM_011520641.3:c.2440dup, XM_011520641.2:c.2440dup, XM_011520641.1:c.2440dup, XP_011518942.1:p.Ter814LeuextTer?, XP_011518943.1:p.Ter814LeuextTer?

Select item 147788112514.

rs1477881125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29495310 (GRCh38)
12:29648243 (GRCh37)
Canonical SPDI:: NC_000012.12:29495309:C:T
Gene:: OVCH1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29495310C>T, NC_000012.11:g.29648243C>T, XM_011520640.3:c.429G>A, XM_011520640.2:c.429G>A, XM_011520640.1:c.429G>A, XM_011520638.3:c.429G>A, XM_011520638.2:c.429G>A, XM_011520638.1:c.429G>A, XM_011520641.3:c.429G>A, XM_011520641.2:c.429G>A, XM_011520641.1:c.429G>A, XM_011520642.3:c.429G>A, XM_011520642.2:c.429G>A, XM_011520642.1:c.429G>A, XM_024448968.2:c.429G>A, XM_024448968.1:c.429G>A, XM_017019256.2:c.429G>A, XM_017019256.1:c.429G>A, NM_001353179.2:c.429G>A, NM_001353179.1:c.429G>A, NM_183378.2:c.429G>A, XM_024448969.2:c.429G>A, XM_024448969.1:c.429G>A, XM_047428777.1:c.429G>A, XM_047428778.1:c.429G>A, XM_047428779.1:c.429G>A, XM_047428781.1:c.429G>A

Select item 147780814215.

rs1477808142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29497664 (GRCh38)
12:29650597 (GRCh37)
Canonical SPDI:: NC_000012.12:29497663:C:T
Gene:: OVCH1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29497664C>T, NC_000012.11:g.29650597C>T, XM_011520640.3:c.23G>A, XM_011520640.2:c.23G>A, XM_011520640.1:c.23G>A, XM_011520638.3:c.23G>A, XM_011520638.2:c.23G>A, XM_011520638.1:c.23G>A, XM_011520641.3:c.23G>A, XM_011520641.2:c.23G>A, XM_011520641.1:c.23G>A, XM_011520642.3:c.23G>A, XM_011520642.2:c.23G>A, XM_011520642.1:c.23G>A, XM_024448968.2:c.23G>A, XM_024448968.1:c.23G>A, XM_017019256.2:c.23G>A, XM_017019256.1:c.23G>A, NM_001353179.2:c.23G>A, NM_001353179.1:c.23G>A, NM_183378.2:c.23G>A, XM_024448969.2:c.23G>A, XM_024448969.1:c.23G>A, XM_047428777.1:c.23G>A, XM_047428778.1:c.23G>A, XM_047428779.1:c.23G>A, XM_047428781.1:c.23G>A, XP_011518942.1:p.Gly8Asp, XP_011518940.1:p.Gly8Asp, XP_011518943.1:p.Gly8Asp, XP_011518944.1:p.Gly8Asp, XP_024304736.1:p.Gly8Asp, XP_016874745.1:p.Gly8Asp, NP_001340108.1:p.Gly8Asp, XP_024304737.1:p.Gly8Asp, XP_047284733.1:p.Gly8Asp, XP_047284734.1:p.Gly8Asp, XP_047284735.1:p.Gly8Asp, XP_047284737.1:p.Gly8Asp

Select item 147664162016.

rs1476641620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29464689 (GRCh38)
12:29617622 (GRCh37)
Canonical SPDI:: NC_000012.12:29464688:T:C
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464689T>C, NC_000012.11:g.29617622T>C, XM_011520640.3:c.2048A>G, XM_011520640.2:c.2048A>G, XM_011520640.1:c.2048A>G, XM_011520638.3:c.2048A>G, XM_011520638.2:c.2048A>G, XM_011520638.1:c.2048A>G, XM_011520641.3:c.2048A>G, XM_011520641.2:c.2048A>G, XM_011520641.1:c.2048A>G, XM_024448968.2:c.2048A>G, XM_024448968.1:c.2048A>G, XM_017019256.2:c.2048A>G, XM_017019256.1:c.2048A>G, NM_001353179.2:c.2048A>G, NM_001353179.1:c.2048A>G, NM_183378.2:c.1943A>G, XM_047428780.1:c.746A>G, XM_047428777.1:c.2048A>G, XM_047428778.1:c.2048A>G, XM_047428779.1:c.2048A>G, NR_073170.1:n.1046T>C, NR_073171.1:n.984T>C, XP_011518942.1:p.Lys683Arg, XP_011518940.1:p.Lys683Arg, XP_011518943.1:p.Lys683Arg, XP_024304736.1:p.Lys683Arg, XP_016874745.1:p.Lys683Arg, NP_001340108.1:p.Lys683Arg, XP_047284736.1:p.Lys249Arg, XP_047284733.1:p.Lys683Arg, XP_047284734.1:p.Lys683Arg, XP_047284735.1:p.Lys683Arg

Select item 147634208117.

rs1476342081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29464679 (GRCh38)
12:29617612 (GRCh37)
Canonical SPDI:: NC_000012.12:29464678:T:G
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464679T>G, NC_000012.11:g.29617612T>G, XM_011520640.3:c.2058A>C, XM_011520640.2:c.2058A>C, XM_011520640.1:c.2058A>C, XM_011520638.3:c.2058A>C, XM_011520638.2:c.2058A>C, XM_011520638.1:c.2058A>C, XM_011520641.3:c.2058A>C, XM_011520641.2:c.2058A>C, XM_011520641.1:c.2058A>C, XM_024448968.2:c.2058A>C, XM_024448968.1:c.2058A>C, XM_017019256.2:c.2058A>C, XM_017019256.1:c.2058A>C, NM_001353179.2:c.2058A>C, NM_001353179.1:c.2058A>C, NM_183378.2:c.1953A>C, XM_047428780.1:c.756A>C, XM_047428777.1:c.2058A>C, XM_047428778.1:c.2058A>C, XM_047428779.1:c.2058A>C, NR_073170.1:n.1036T>G, NR_073171.1:n.974T>G

Select item 147630407418.

rs1476304074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:29487854 (GRCh38)
12:29640787 (GRCh37)
Canonical SPDI:: NC_000012.12:29487853:C:G
Gene:: OVCH1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29487854C>G, NC_000012.11:g.29640787C>G, XM_011520640.3:c.731G>C, XM_011520640.2:c.731G>C, XM_011520640.1:c.731G>C, XM_011520638.3:c.731G>C, XM_011520638.2:c.731G>C, XM_011520638.1:c.731G>C, XM_011520641.3:c.731G>C, XM_011520641.2:c.731G>C, XM_011520641.1:c.731G>C, XM_011520642.3:c.731G>C, XM_011520642.2:c.731G>C, XM_011520642.1:c.731G>C, XM_024448968.2:c.731G>C, XM_024448968.1:c.731G>C, XM_017019256.2:c.731G>C, XM_017019256.1:c.731G>C, NM_001353179.2:c.731G>C, NM_001353179.1:c.731G>C, NM_183378.2:c.731G>C, XM_024448969.2:c.731G>C, XM_024448969.1:c.731G>C, XM_047428777.1:c.731G>C, XM_047428778.1:c.731G>C, XM_047428779.1:c.731G>C, XM_047428781.1:c.731G>C, XP_011518942.1:p.Arg244Thr, XP_011518940.1:p.Arg244Thr, XP_011518943.1:p.Arg244Thr, XP_011518944.1:p.Arg244Thr, XP_024304736.1:p.Arg244Thr, XP_016874745.1:p.Arg244Thr, NP_001340108.1:p.Arg244Thr, XP_024304737.1:p.Arg244Thr, XP_047284733.1:p.Arg244Thr, XP_047284734.1:p.Arg244Thr, XP_047284735.1:p.Arg244Thr, XP_047284737.1:p.Arg244Thr

Select item 147440583419.

rs1474405834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:29471955 (GRCh38)
12:29624888 (GRCh37)
Canonical SPDI:: NC_000012.12:29471954:G:A,NC_000012.12:29471954:G:C
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.29471955G>A, NC_000012.12:g.29471955G>C, NC_000012.11:g.29624888G>A, NC_000012.11:g.29624888G>C, XM_011520640.3:c.1808C>T, XM_011520640.3:c.1808C>G, XM_011520640.2:c.1808C>T, XM_011520640.2:c.1808C>G, XM_011520640.1:c.1808C>T, XM_011520640.1:c.1808C>G, XM_011520638.3:c.1808C>T, XM_011520638.3:c.1808C>G, XM_011520638.2:c.1808C>T, XM_011520638.2:c.1808C>G, XM_011520638.1:c.1808C>T, XM_011520638.1:c.1808C>G, XM_011520641.3:c.1808C>T, XM_011520641.3:c.1808C>G, XM_011520641.2:c.1808C>T, XM_011520641.2:c.1808C>G, XM_011520641.1:c.1808C>T, XM_011520641.1:c.1808C>G, XM_011520642.3:c.1808C>T, XM_011520642.3:c.1808C>G, XM_011520642.2:c.1808C>T, XM_011520642.2:c.1808C>G, XM_011520642.1:c.1808C>T, XM_011520642.1:c.1808C>G, XM_024448968.2:c.1808C>T, XM_024448968.2:c.1808C>G, XM_024448968.1:c.1808C>T, XM_024448968.1:c.1808C>G, XM_017019256.2:c.1808C>T, XM_017019256.2:c.1808C>G, XM_017019256.1:c.1808C>T, XM_017019256.1:c.1808C>G, NM_001353179.2:c.1808C>T, NM_001353179.2:c.1808C>G, NM_001353179.1:c.1808C>T, NM_001353179.1:c.1808C>G, NM_183378.2:c.1703C>T, NM_183378.2:c.1703C>G, XM_047428780.1:c.506C>T, XM_047428780.1:c.506C>G, XM_047428777.1:c.1808C>T, XM_047428777.1:c.1808C>G, XM_047428778.1:c.1808C>T, XM_047428778.1:c.1808C>G, XM_047428779.1:c.1808C>T, XM_047428779.1:c.1808C>G, XP_011518942.1:p.Pro603Leu, XP_011518942.1:p.Pro603Arg, XP_011518940.1:p.Pro603Leu, XP_011518940.1:p.Pro603Arg, XP_011518943.1:p.Pro603Leu, XP_011518943.1:p.Pro603Arg, XP_011518944.1:p.Pro603Leu, XP_011518944.1:p.Pro603Arg, XP_024304736.1:p.Pro603Leu, XP_024304736.1:p.Pro603Arg, XP_016874745.1:p.Pro603Leu, XP_016874745.1:p.Pro603Arg, NP_001340108.1:p.Pro603Leu, NP_001340108.1:p.Pro603Arg, XP_047284736.1:p.Pro169Leu, XP_047284736.1:p.Pro169Arg, XP_047284733.1:p.Pro603Leu, XP_047284733.1:p.Pro603Arg, XP_047284734.1:p.Pro603Leu, XP_047284734.1:p.Pro603Arg, XP_047284735.1:p.Pro603Leu, XP_047284735.1:p.Pro603Arg

Select item 147431093820.

rs1474310938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:29478841 (GRCh38)
12:29631774 (GRCh37)
Canonical SPDI:: NC_000012.12:29478840:G:T
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29478841G>T, NC_000012.11:g.29631774G>T, XM_011520640.3:c.1207C>A, XM_011520640.2:c.1207C>A, XM_011520640.1:c.1207C>A, XM_011520638.3:c.1207C>A, XM_011520638.2:c.1207C>A, XM_011520638.1:c.1207C>A, XM_011520641.3:c.1207C>A, XM_011520641.2:c.1207C>A, XM_011520641.1:c.1207C>A, XM_011520642.3:c.1207C>A, XM_011520642.2:c.1207C>A, XM_011520642.1:c.1207C>A, XM_024448968.2:c.1207C>A, XM_024448968.1:c.1207C>A, XM_017019256.2:c.1207C>A, XM_017019256.1:c.1207C>A, NM_001353179.2:c.1207C>A, NM_001353179.1:c.1207C>A, NM_183378.2:c.1063C>A, XM_024448969.2:c.1207C>A, XM_024448969.1:c.1207C>A, XM_047428780.1:c.36C>A, XM_047428777.1:c.1207C>A, XM_047428778.1:c.1207C>A, XM_047428779.1:c.1207C>A, XM_047428781.1:c.1207C>A, XP_011518942.1:p.Leu403Ile, XP_011518940.1:p.Leu403Ile, XP_011518943.1:p.Leu403Ile, XP_011518944.1:p.Leu403Ile, XP_024304736.1:p.Leu403Ile, XP_016874745.1:p.Leu403Ile, NP_001340108.1:p.Leu403Ile, XP_024304737.1:p.Leu403Ile, XP_047284736.1:p.Cys12Ter, XP_047284733.1:p.Leu403Ile, XP_047284734.1:p.Leu403Ile, XP_047284735.1:p.Leu403Ile, XP_047284737.1:p.Leu403Ile

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