SNP Links for Protein (Select 1034632599) - SNP

Links from Protein

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Select item 14907595371.

rs1490759537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:108963440 (GRCh38)
3:108682287 (GRCh37)
Canonical SPDI:: NC_000003.12:108963439:C:A,NC_000003.12:108963439:C:T
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.108963440C>A, NC_000003.12:g.108963440C>T, NC_000003.11:g.108682287C>A, NC_000003.11:g.108682287C>T, NM_014429.4:c.2773G>T, NM_014429.4:c.2773G>A, NM_014429.3:c.2773G>T, NM_014429.3:c.2773G>A, XM_005247362.3:c.2863G>T, XM_005247362.3:c.2863G>A, XM_005247362.2:c.2863G>T, XM_005247362.2:c.2863G>A, XM_005247362.1:c.2863G>T, XM_005247362.1:c.2863G>A, XM_011512697.3:c.2116G>T, XM_011512697.3:c.2116G>A, XM_011512697.2:c.2116G>T, XM_011512697.2:c.2116G>A, XM_011512697.1:c.2116G>T, XM_011512697.1:c.2116G>A, XM_017006169.3:c.2869G>T, XM_017006169.3:c.2869G>A, XM_017006169.2:c.2869G>T, XM_017006169.2:c.2869G>A, XM_017006169.1:c.2869G>T, XM_017006169.1:c.2869G>A, XM_011512691.2:c.2869G>T, XM_011512691.2:c.2869G>A, XM_011512691.1:c.2869G>T, XM_011512691.1:c.2869G>A, XM_011512692.2:c.2779G>T, XM_011512692.2:c.2779G>A, XM_011512692.1:c.2779G>T, XM_011512692.1:c.2779G>A, XM_011512696.2:c.2191G>T, XM_011512696.2:c.2191G>A, XM_011512696.1:c.2191G>T, XM_011512696.1:c.2191G>A, XM_011512694.1:c.2572G>T, XM_011512694.1:c.2572G>A, XM_047447970.1:c.2101G>T, XM_047447970.1:c.2101G>A, NP_055244.3:p.Ala925Ser, NP_055244.3:p.Ala925Thr, XP_005247419.1:p.Ala955Ser, XP_005247419.1:p.Ala955Thr, XP_011510999.1:p.Ala706Ser, XP_011510999.1:p.Ala706Thr, XP_016861658.1:p.Ala957Ser, XP_016861658.1:p.Ala957Thr, XP_011510993.1:p.Ala957Ser, XP_011510993.1:p.Ala957Thr, XP_011510994.1:p.Ala927Ser, XP_011510994.1:p.Ala927Thr, XP_011510998.1:p.Ala731Ser, XP_011510998.1:p.Ala731Thr, XP_011510996.1:p.Ala858Ser, XP_011510996.1:p.Ala858Thr, XP_047303926.1:p.Ala701Ser, XP_047303926.1:p.Ala701Thr

Select item 14868678772.

rs1486867877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:108971373 (GRCh38)
3:108690220 (GRCh37)
Canonical SPDI:: NC_000003.12:108971372:T:C
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.108971373T>C, NC_000003.11:g.108690220T>C, NM_014429.4:c.2507A>G, NM_014429.3:c.2507A>G, XM_005247362.3:c.2597A>G, XM_005247362.2:c.2597A>G, XM_005247362.1:c.2597A>G, XM_011512697.3:c.1850A>G, XM_011512697.2:c.1850A>G, XM_011512697.1:c.1850A>G, XM_017006169.3:c.2603A>G, XM_017006169.2:c.2603A>G, XM_017006169.1:c.2603A>G, XM_011512691.2:c.2603A>G, XM_011512691.1:c.2603A>G, XM_011512692.2:c.2513A>G, XM_011512692.1:c.2513A>G, XM_011512693.2:c.2603A>G, XM_011512693.1:c.2603A>G, XM_011512696.2:c.1925A>G, XM_011512696.1:c.1925A>G, XM_011512694.1:c.2306A>G, XM_047447968.1:c.2513A>G, XM_047447970.1:c.1835A>G, NP_055244.3:p.His836Arg, XP_005247419.1:p.His866Arg, XP_011510999.1:p.His617Arg, XP_016861658.1:p.His868Arg, XP_011510993.1:p.His868Arg, XP_011510994.1:p.His838Arg, XP_011510995.1:p.His868Arg, XP_011510998.1:p.His642Arg, XP_011510996.1:p.His769Arg, XP_047303924.1:p.His838Arg, XP_047303926.1:p.His612Arg

Select item 14861095983.

rs1486109598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:109063182 (GRCh38)
3:108782029 (GRCh37)
Canonical SPDI:: NC_000003.12:109063181:C:A
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109063182C>A, NC_000003.11:g.108782029C>A, NM_014429.4:c.865G>T, NM_014429.3:c.865G>T, XM_005247362.3:c.865G>T, XM_005247362.2:c.865G>T, XM_005247362.1:c.865G>T, XM_011512697.3:c.118G>T, XM_011512697.2:c.118G>T, XM_011512697.1:c.118G>T, XM_017006169.3:c.871G>T, XM_017006169.2:c.871G>T, XM_017006169.1:c.871G>T, XM_011512691.2:c.871G>T, XM_011512691.1:c.871G>T, XM_011512692.2:c.871G>T, XM_011512692.1:c.871G>T, XM_011512693.2:c.871G>T, XM_011512693.1:c.871G>T, XM_011512696.2:c.193G>T, XM_011512696.1:c.193G>T, XM_011512694.1:c.574G>T, XM_047447968.1:c.871G>T, XM_047447970.1:c.193G>T, NP_055244.3:p.Val289Phe, XP_005247419.1:p.Val289Phe, XP_011510999.1:p.Val40Phe, XP_016861658.1:p.Val291Phe, XP_011510993.1:p.Val291Phe, XP_011510994.1:p.Val291Phe, XP_011510995.1:p.Val291Phe, XP_011510998.1:p.Val65Phe, XP_011510996.1:p.Val192Phe, XP_047303924.1:p.Val291Phe, XP_047303926.1:p.Val65Phe

Select item 14856927644.

rs1485692764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:108971333 (GRCh38)
3:108690180 (GRCh37)
Canonical SPDI:: NC_000003.12:108971332:A:G
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.108971333A>G, NC_000003.11:g.108690180A>G, NM_014429.4:c.2547T>C, NM_014429.3:c.2547T>C, XM_005247362.3:c.2637T>C, XM_005247362.2:c.2637T>C, XM_005247362.1:c.2637T>C, XM_011512697.3:c.1890T>C, XM_011512697.2:c.1890T>C, XM_011512697.1:c.1890T>C, XM_017006169.3:c.2643T>C, XM_017006169.2:c.2643T>C, XM_017006169.1:c.2643T>C, XM_011512691.2:c.2643T>C, XM_011512691.1:c.2643T>C, XM_011512692.2:c.2553T>C, XM_011512692.1:c.2553T>C, XM_011512693.2:c.2643T>C, XM_011512693.1:c.2643T>C, XM_011512696.2:c.1965T>C, XM_011512696.1:c.1965T>C, XM_011512694.1:c.2346T>C, XM_047447968.1:c.2553T>C, XM_047447970.1:c.1875T>C

Select item 14837026515.

rs1483702651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:109057408 (GRCh38)
3:108776255 (GRCh37)
Canonical SPDI:: NC_000003.12:109057407:A:G
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109057408A>G, NC_000003.11:g.108776255A>G, NM_014429.4:c.1110T>C, NM_014429.3:c.1110T>C, XM_005247362.3:c.1110T>C, XM_005247362.2:c.1110T>C, XM_005247362.1:c.1110T>C, XM_011512697.3:c.363T>C, XM_011512697.2:c.363T>C, XM_011512697.1:c.363T>C, XM_017006169.3:c.1116T>C, XM_017006169.2:c.1116T>C, XM_017006169.1:c.1116T>C, XM_011512691.2:c.1116T>C, XM_011512691.1:c.1116T>C, XM_011512692.2:c.1116T>C, XM_011512692.1:c.1116T>C, XM_011512693.2:c.1116T>C, XM_011512693.1:c.1116T>C, XM_011512696.2:c.438T>C, XM_011512696.1:c.438T>C, XM_011512694.1:c.819T>C, XM_047447968.1:c.1116T>C, XM_047447970.1:c.438T>C

Select item 14822818116.

rs1482281811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:108986947 (GRCh38)
3:108705794 (GRCh37)
Canonical SPDI:: NC_000003.12:108986946:A:G
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.108986947A>G, NC_000003.11:g.108705794A>G, NM_014429.4:c.2190T>C, NM_014429.3:c.2190T>C, XM_005247362.3:c.2280T>C, XM_005247362.2:c.2280T>C, XM_005247362.1:c.2280T>C, XM_011512697.3:c.1533T>C, XM_011512697.2:c.1533T>C, XM_011512697.1:c.1533T>C, XM_017006169.3:c.2286T>C, XM_017006169.2:c.2286T>C, XM_017006169.1:c.2286T>C, XM_011512691.2:c.2286T>C, XM_011512691.1:c.2286T>C, XM_011512692.2:c.2196T>C, XM_011512692.1:c.2196T>C, XM_011512693.2:c.2286T>C, XM_011512693.1:c.2286T>C, XM_011512696.2:c.1608T>C, XM_011512696.1:c.1608T>C, XM_011512694.1:c.1989T>C, XM_047447968.1:c.2196T>C, XM_047447970.1:c.1518T>C

Select item 14819742777.

rs1481974277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:109114421 (GRCh38)
3:108833268 (GRCh37)
Canonical SPDI:: NC_000003.12:109114420:G:A,NC_000003.12:109114420:G:T
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000003.12:g.109114421G>A, NC_000003.12:g.109114421G>T, NC_000003.11:g.108833268G>A, NC_000003.11:g.108833268G>T, NM_014429.4:c.82C>T, NM_014429.4:c.82C>A, NM_014429.3:c.82C>T, NM_014429.3:c.82C>A, XM_005247362.3:c.82C>T, XM_005247362.3:c.82C>A, XM_005247362.2:c.82C>T, XM_005247362.2:c.82C>A, XM_005247362.1:c.82C>T, XM_005247362.1:c.82C>A, XM_017006169.3:c.82C>T, XM_017006169.3:c.82C>A, XM_017006169.2:c.82C>T, XM_017006169.2:c.82C>A, XM_017006169.1:c.82C>T, XM_017006169.1:c.82C>A, XM_011512691.2:c.82C>T, XM_011512691.2:c.82C>A, XM_011512691.1:c.82C>T, XM_011512691.1:c.82C>A, XM_011512692.2:c.82C>T, XM_011512692.2:c.82C>A, XM_011512692.1:c.82C>T, XM_011512692.1:c.82C>A, XM_011512693.2:c.82C>T, XM_011512693.2:c.82C>A, XM_011512693.1:c.82C>T, XM_011512693.1:c.82C>A, XM_047447968.1:c.82C>T, XM_047447968.1:c.82C>A, NP_055244.3:p.Leu28Phe, NP_055244.3:p.Leu28Ile, XP_005247419.1:p.Leu28Phe, XP_005247419.1:p.Leu28Ile, XP_016861658.1:p.Leu28Phe, XP_016861658.1:p.Leu28Ile, XP_011510993.1:p.Leu28Phe, XP_011510993.1:p.Leu28Ile, XP_011510994.1:p.Leu28Phe, XP_011510994.1:p.Leu28Ile, XP_011510995.1:p.Leu28Phe, XP_011510995.1:p.Leu28Ile, XP_047303924.1:p.Leu28Phe, XP_047303924.1:p.Leu28Ile

Select item 14808766868.

rs1480876686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:109093538 (GRCh38)
3:108812385 (GRCh37)
Canonical SPDI:: NC_000003.12:109093537:G:A
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.109093538G>A, NC_000003.11:g.108812385G>A, NM_014429.4:c.587C>T, NM_014429.3:c.587C>T, XM_005247362.3:c.587C>T, XM_005247362.2:c.587C>T, XM_005247362.1:c.587C>T, XM_017006169.3:c.587C>T, XM_017006169.2:c.587C>T, XM_017006169.1:c.587C>T, XM_011512691.2:c.587C>T, XM_011512691.1:c.587C>T, XM_011512692.2:c.587C>T, XM_011512692.1:c.587C>T, XM_011512693.2:c.587C>T, XM_011512693.1:c.587C>T, XM_011512694.1:c.290C>T, XM_047447968.1:c.587C>T, NP_055244.3:p.Thr196Ile, XP_005247419.1:p.Thr196Ile, XP_016861658.1:p.Thr196Ile, XP_011510993.1:p.Thr196Ile, XP_011510994.1:p.Thr196Ile, XP_011510995.1:p.Thr196Ile, XP_011510996.1:p.Thr97Ile, XP_047303924.1:p.Thr196Ile

Select item 14788179209.

rs1478817920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:109094939 (GRCh38)
3:108813786 (GRCh37)
Canonical SPDI:: NC_000003.12:109094938:G:C
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109094939G>C, NC_000003.11:g.108813786G>C, NM_014429.4:c.553C>G, NM_014429.3:c.553C>G, XM_005247362.3:c.553C>G, XM_005247362.2:c.553C>G, XM_005247362.1:c.553C>G, XM_017006169.3:c.553C>G, XM_017006169.2:c.553C>G, XM_017006169.1:c.553C>G, XM_011512691.2:c.553C>G, XM_011512691.1:c.553C>G, XM_011512692.2:c.553C>G, XM_011512692.1:c.553C>G, XM_011512693.2:c.553C>G, XM_011512693.1:c.553C>G, XM_011512694.1:c.256C>G, XM_047447968.1:c.553C>G, NP_055244.3:p.Gln185Glu, XP_005247419.1:p.Gln185Glu, XP_016861658.1:p.Gln185Glu, XP_011510993.1:p.Gln185Glu, XP_011510994.1:p.Gln185Glu, XP_011510995.1:p.Gln185Glu, XP_011510996.1:p.Gln86Glu, XP_047303924.1:p.Gln185Glu

Select item 147795350010.

rs1477953500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:109005208 (GRCh38)
3:108724055 (GRCh37)
Canonical SPDI:: NC_000003.12:109005207:T:C
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.109005208T>C, NC_000003.11:g.108724055T>C, NM_014429.4:c.1875A>G, NM_014429.3:c.1875A>G, XM_005247362.3:c.1965A>G, XM_005247362.2:c.1965A>G, XM_005247362.1:c.1965A>G, XM_011512697.3:c.1218A>G, XM_011512697.2:c.1218A>G, XM_011512697.1:c.1218A>G, XM_017006169.3:c.1971A>G, XM_017006169.2:c.1971A>G, XM_017006169.1:c.1971A>G, XM_011512691.2:c.1971A>G, XM_011512691.1:c.1971A>G, XM_011512692.2:c.1881A>G, XM_011512692.1:c.1881A>G, XM_011512693.2:c.1971A>G, XM_011512693.1:c.1971A>G, XM_011512696.2:c.1293A>G, XM_011512696.1:c.1293A>G, XM_011512694.1:c.1674A>G, XM_047447968.1:c.1881A>G, XM_047447970.1:c.1203A>G, NP_055244.3:p.Ile625Met, XP_005247419.1:p.Ile655Met, XP_011510999.1:p.Ile406Met, XP_016861658.1:p.Ile657Met, XP_011510993.1:p.Ile657Met, XP_011510994.1:p.Ile627Met, XP_011510995.1:p.Ile657Met, XP_011510998.1:p.Ile431Met, XP_011510996.1:p.Ile558Met, XP_047303924.1:p.Ile627Met, XP_047303926.1:p.Ile401Met

Select item 147785089811.

rs1477850898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:108963474 (GRCh38)
3:108682321 (GRCh37)
Canonical SPDI:: NC_000003.12:108963473:A:G
Gene:: MORC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.108963474A>G, NC_000003.11:g.108682321A>G, NM_014429.4:c.2739T>C, NM_014429.3:c.2739T>C, XM_005247362.3:c.2829T>C, XM_005247362.2:c.2829T>C, XM_005247362.1:c.2829T>C, XM_011512697.3:c.2082T>C, XM_011512697.2:c.2082T>C, XM_011512697.1:c.2082T>C, XM_017006169.3:c.2835T>C, XM_017006169.2:c.2835T>C, XM_017006169.1:c.2835T>C, XM_011512691.2:c.2835T>C, XM_011512691.1:c.2835T>C, XM_011512692.2:c.2745T>C, XM_011512692.1:c.2745T>C, XM_011512696.2:c.2157T>C, XM_011512696.1:c.2157T>C, XM_011512694.1:c.2538T>C, XM_047447970.1:c.2067T>C

Select item 147737183412.

rs1477371834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:109000627 (GRCh38)
3:108719474 (GRCh37)
Canonical SPDI:: NC_000003.12:109000626:C:G
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.109000627C>G, NC_000003.11:g.108719474C>G, NM_014429.4:c.2117G>C, NM_014429.3:c.2117G>C, XM_005247362.3:c.2207G>C, XM_005247362.2:c.2207G>C, XM_005247362.1:c.2207G>C, XM_011512697.3:c.1460G>C, XM_011512697.2:c.1460G>C, XM_011512697.1:c.1460G>C, XM_017006169.3:c.2213G>C, XM_017006169.2:c.2213G>C, XM_017006169.1:c.2213G>C, XM_011512691.2:c.2213G>C, XM_011512691.1:c.2213G>C, XM_011512692.2:c.2123G>C, XM_011512692.1:c.2123G>C, XM_011512693.2:c.2213G>C, XM_011512693.1:c.2213G>C, XM_011512696.2:c.1535G>C, XM_011512696.1:c.1535G>C, XM_011512694.1:c.1916G>C, XM_047447968.1:c.2123G>C, XM_047447970.1:c.1445G>C, NP_055244.3:p.Ser706Thr, XP_005247419.1:p.Ser736Thr, XP_011510999.1:p.Ser487Thr, XP_016861658.1:p.Ser738Thr, XP_011510993.1:p.Ser738Thr, XP_011510994.1:p.Ser708Thr, XP_011510995.1:p.Ser738Thr, XP_011510998.1:p.Ser512Thr, XP_011510996.1:p.Ser639Thr, XP_047303924.1:p.Ser708Thr, XP_047303926.1:p.Ser482Thr

Select item 147522949813.

rs1475229498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:109004833 (GRCh38)
3:108723680 (GRCh37)
Canonical SPDI:: NC_000003.12:109004832:C:T
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.109004833C>T, NC_000003.11:g.108723680C>T, NM_014429.4:c.2069G>A, NM_014429.3:c.2069G>A, XM_005247362.3:c.2159G>A, XM_005247362.2:c.2159G>A, XM_005247362.1:c.2159G>A, XM_011512697.3:c.1412G>A, XM_011512697.2:c.1412G>A, XM_011512697.1:c.1412G>A, XM_017006169.3:c.2165G>A, XM_017006169.2:c.2165G>A, XM_017006169.1:c.2165G>A, XM_011512691.2:c.2165G>A, XM_011512691.1:c.2165G>A, XM_011512692.2:c.2075G>A, XM_011512692.1:c.2075G>A, XM_011512693.2:c.2165G>A, XM_011512693.1:c.2165G>A, XM_011512696.2:c.1487G>A, XM_011512696.1:c.1487G>A, XM_011512694.1:c.1868G>A, XM_047447968.1:c.2075G>A, XM_047447970.1:c.1397G>A, NP_055244.3:p.Cys690Tyr, XP_005247419.1:p.Cys720Tyr, XP_011510999.1:p.Cys471Tyr, XP_016861658.1:p.Cys722Tyr, XP_011510993.1:p.Cys722Tyr, XP_011510994.1:p.Cys692Tyr, XP_011510995.1:p.Cys722Tyr, XP_011510998.1:p.Cys496Tyr, XP_011510996.1:p.Cys623Tyr, XP_047303924.1:p.Cys692Tyr, XP_047303926.1:p.Cys466Tyr

Select item 147327251614.

rs1473272516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:109027808 (GRCh38)
3:108746655 (GRCh37)
Canonical SPDI:: NC_000003.12:109027807:C:G,NC_000003.12:109027807:C:T
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.109027808C>G, NC_000003.12:g.109027808C>T, NC_000003.11:g.108746655C>G, NC_000003.11:g.108746655C>T, NM_014429.4:c.1647G>C, NM_014429.4:c.1647G>A, NM_014429.3:c.1647G>C, NM_014429.3:c.1647G>A, XM_005247362.3:c.1737G>C, XM_005247362.3:c.1737G>A, XM_005247362.2:c.1737G>C, XM_005247362.2:c.1737G>A, XM_005247362.1:c.1737G>C, XM_005247362.1:c.1737G>A, XM_011512697.3:c.990G>C, XM_011512697.3:c.990G>A, XM_011512697.2:c.990G>C, XM_011512697.2:c.990G>A, XM_011512697.1:c.990G>C, XM_011512697.1:c.990G>A, XM_017006169.3:c.1743G>C, XM_017006169.3:c.1743G>A, XM_017006169.2:c.1743G>C, XM_017006169.2:c.1743G>A, XM_017006169.1:c.1743G>C, XM_017006169.1:c.1743G>A, XM_011512691.2:c.1743G>C, XM_011512691.2:c.1743G>A, XM_011512691.1:c.1743G>C, XM_011512691.1:c.1743G>A, XM_011512692.2:c.1653G>C, XM_011512692.2:c.1653G>A, XM_011512692.1:c.1653G>C, XM_011512692.1:c.1653G>A, XM_011512693.2:c.1743G>C, XM_011512693.2:c.1743G>A, XM_011512693.1:c.1743G>C, XM_011512693.1:c.1743G>A, XM_011512696.2:c.1065G>C, XM_011512696.2:c.1065G>A, XM_011512696.1:c.1065G>C, XM_011512696.1:c.1065G>A, XM_011512694.1:c.1446G>C, XM_011512694.1:c.1446G>A, XM_047447968.1:c.1653G>C, XM_047447968.1:c.1653G>A, XM_047447970.1:c.975G>C, XM_047447970.1:c.975G>A, NP_055244.3:p.Lys549Asn, XP_005247419.1:p.Lys579Asn, XP_011510999.1:p.Lys330Asn, XP_016861658.1:p.Lys581Asn, XP_011510993.1:p.Lys581Asn, XP_011510994.1:p.Lys551Asn, XP_011510995.1:p.Lys581Asn, XP_011510998.1:p.Lys355Asn, XP_011510996.1:p.Lys482Asn, XP_047303924.1:p.Lys551Asn, XP_047303926.1:p.Lys325Asn

Select item 147186860215.

rs1471868602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:108986885 (GRCh38)
3:108705732 (GRCh37)
Canonical SPDI:: NC_000003.12:108986884:T:C
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.108986885T>C, NC_000003.11:g.108705732T>C, NM_014429.4:c.2252A>G, NM_014429.3:c.2252A>G, XM_005247362.3:c.2342A>G, XM_005247362.2:c.2342A>G, XM_005247362.1:c.2342A>G, XM_011512697.3:c.1595A>G, XM_011512697.2:c.1595A>G, XM_011512697.1:c.1595A>G, XM_017006169.3:c.2348A>G, XM_017006169.2:c.2348A>G, XM_017006169.1:c.2348A>G, XM_011512691.2:c.2348A>G, XM_011512691.1:c.2348A>G, XM_011512692.2:c.2258A>G, XM_011512692.1:c.2258A>G, XM_011512693.2:c.2348A>G, XM_011512693.1:c.2348A>G, XM_011512696.2:c.1670A>G, XM_011512696.1:c.1670A>G, XM_011512694.1:c.2051A>G, XM_047447968.1:c.2258A>G, XM_047447970.1:c.1580A>G, NP_055244.3:p.Asn751Ser, XP_005247419.1:p.Asn781Ser, XP_011510999.1:p.Asn532Ser, XP_016861658.1:p.Asn783Ser, XP_011510993.1:p.Asn783Ser, XP_011510994.1:p.Asn753Ser, XP_011510995.1:p.Asn783Ser, XP_011510998.1:p.Asn557Ser, XP_011510996.1:p.Asn684Ser, XP_047303924.1:p.Asn753Ser, XP_047303926.1:p.Asn527Ser

Select item 147163894616.

rs1471638946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:109005267 (GRCh38)
3:108724114 (GRCh37)
Canonical SPDI:: NC_000003.12:109005266:G:C
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109005267G>C, NC_000003.11:g.108724114G>C, NM_014429.4:c.1816C>G, NM_014429.3:c.1816C>G, XM_005247362.3:c.1906C>G, XM_005247362.2:c.1906C>G, XM_005247362.1:c.1906C>G, XM_011512697.3:c.1159C>G, XM_011512697.2:c.1159C>G, XM_011512697.1:c.1159C>G, XM_017006169.3:c.1912C>G, XM_017006169.2:c.1912C>G, XM_017006169.1:c.1912C>G, XM_011512691.2:c.1912C>G, XM_011512691.1:c.1912C>G, XM_011512692.2:c.1822C>G, XM_011512692.1:c.1822C>G, XM_011512693.2:c.1912C>G, XM_011512693.1:c.1912C>G, XM_011512696.2:c.1234C>G, XM_011512696.1:c.1234C>G, XM_011512694.1:c.1615C>G, XM_047447968.1:c.1822C>G, XM_047447970.1:c.1144C>G, NP_055244.3:p.His606Asp, XP_005247419.1:p.His636Asp, XP_011510999.1:p.His387Asp, XP_016861658.1:p.His638Asp, XP_011510993.1:p.His638Asp, XP_011510994.1:p.His608Asp, XP_011510995.1:p.His638Asp, XP_011510998.1:p.His412Asp, XP_011510996.1:p.His539Asp, XP_047303924.1:p.His608Asp, XP_047303926.1:p.His382Asp

Select item 147031379317.

rs1470313793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:109032812 (GRCh38)
3:108751659 (GRCh37)
Canonical SPDI:: NC_000003.12:109032811:T:C
Gene:: MORC1 (Varview)
Functional Consequence:: synonymous_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_000003.12:g.109032812T>C, NC_000003.11:g.108751659T>C, NM_014429.4:c.1473A>G, NM_014429.3:c.1473A>G, XM_005247362.3:c.1563A>G, XM_005247362.2:c.1563A>G, XM_005247362.1:c.1563A>G, XM_011512697.3:c.816A>G, XM_011512697.2:c.816A>G, XM_011512697.1:c.816A>G, XM_017006169.3:c.1569A>G, XM_017006169.2:c.1569A>G, XM_017006169.1:c.1569A>G, XM_011512691.2:c.1569A>G, XM_011512691.1:c.1569A>G, XM_011512692.2:c.1479A>G, XM_011512692.1:c.1479A>G, XM_011512693.2:c.1569A>G, XM_011512693.1:c.1569A>G, XM_011512696.2:c.891A>G, XM_011512696.1:c.891A>G, XM_011512694.1:c.1272A>G, XM_047447968.1:c.1479A>G, XM_047447970.1:c.801A>G

Select item 146781306518.

rs1467813065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:109054783 (GRCh38)
3:108773630 (GRCh37)
Canonical SPDI:: NC_000003.12:109054782:A:C
Gene:: MORC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.109054783A>C, NC_000003.11:g.108773630A>C, NM_014429.4:c.1275T>G, NM_014429.3:c.1275T>G, XM_005247362.3:c.1275T>G, XM_005247362.2:c.1275T>G, XM_005247362.1:c.1275T>G, XM_011512697.3:c.528T>G, XM_011512697.2:c.528T>G, XM_011512697.1:c.528T>G, XM_017006169.3:c.1281T>G, XM_017006169.2:c.1281T>G, XM_017006169.1:c.1281T>G, XM_011512691.2:c.1281T>G, XM_011512691.1:c.1281T>G, XM_011512692.2:c.1281T>G, XM_011512692.1:c.1281T>G, XM_011512693.2:c.1281T>G, XM_011512693.1:c.1281T>G, XM_011512696.2:c.603T>G, XM_011512696.1:c.603T>G, XM_011512694.1:c.984T>G, XM_047447968.1:c.1281T>G, XM_047447970.1:c.603T>G, NP_055244.3:p.His425Gln, XP_005247419.1:p.His425Gln, XP_011510999.1:p.His176Gln, XP_016861658.1:p.His427Gln, XP_011510993.1:p.His427Gln, XP_011510994.1:p.His427Gln, XP_011510995.1:p.His427Gln, XP_011510998.1:p.His201Gln, XP_011510996.1:p.His328Gln, XP_047303924.1:p.His427Gln, XP_047303926.1:p.His201Gln

Select item 146739607819.

rs1467396078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:109100457 (GRCh38)
3:108819304 (GRCh37)
Canonical SPDI:: NC_000003.12:109100456:T:C
Gene:: MORC1 (Varview), MORC1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.109100457T>C, NC_000003.11:g.108819304T>C, NM_014429.4:c.274A>G, NM_014429.3:c.274A>G, XM_005247362.3:c.274A>G, XM_005247362.2:c.274A>G, XM_005247362.1:c.274A>G, XM_017006169.3:c.274A>G, XM_017006169.2:c.274A>G, XM_017006169.1:c.274A>G, XM_011512691.2:c.274A>G, XM_011512691.1:c.274A>G, XM_011512692.2:c.274A>G, XM_011512692.1:c.274A>G, XM_011512693.2:c.274A>G, XM_011512693.1:c.274A>G, XM_047447968.1:c.274A>G, NP_055244.3:p.Thr92Ala, XP_005247419.1:p.Thr92Ala, XP_016861658.1:p.Thr92Ala, XP_011510993.1:p.Thr92Ala, XP_011510994.1:p.Thr92Ala, XP_011510995.1:p.Thr92Ala, XP_047303924.1:p.Thr92Ala

Select item 146529462420.

rs1465294624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:109057471 (GRCh38)
3:108776318 (GRCh37)
Canonical SPDI:: NC_000003.12:109057470:T:G
Gene:: MORC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.109057471T>G, NC_000003.11:g.108776318T>G, NM_014429.4:c.1047A>C, NM_014429.3:c.1047A>C, XM_005247362.3:c.1047A>C, XM_005247362.2:c.1047A>C, XM_005247362.1:c.1047A>C, XM_011512697.3:c.300A>C, XM_011512697.2:c.300A>C, XM_011512697.1:c.300A>C, XM_017006169.3:c.1053A>C, XM_017006169.2:c.1053A>C, XM_017006169.1:c.1053A>C, XM_011512691.2:c.1053A>C, XM_011512691.1:c.1053A>C, XM_011512692.2:c.1053A>C, XM_011512692.1:c.1053A>C, XM_011512693.2:c.1053A>C, XM_011512693.1:c.1053A>C, XM_011512696.2:c.375A>C, XM_011512696.1:c.375A>C, XM_011512694.1:c.756A>C, XM_047447968.1:c.1053A>C, XM_047447970.1:c.375A>C

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