SNP Links for Protein (Select 767910496) - SNP

Links from Protein

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Select item 14907473231.

rs1490747323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:170971758 (GRCh38)
1:170940899 (GRCh37)
Canonical SPDI:: NC_000001.11:170971757:A:G
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170971758A>G, NC_000001.10:g.170940899A>G, NM_025063.4:c.491A>G, NM_025063.3:c.491A>G, NM_025063.2:c.491A>G, XM_011510005.3:c.491A>G, XM_011510005.2:c.491A>G, XM_011510005.1:c.491A>G, XM_011510006.3:c.491A>G, XM_011510006.2:c.491A>G, XM_011510006.1:c.491A>G, NM_001163629.2:c.491A>G, NM_001163629.1:c.491A>G, NP_079339.2:p.Asp164Gly, XP_011508307.1:p.Asp164Gly, XP_011508308.1:p.Asp164Gly, NP_001157101.1:p.Asp164Gly

Select item 14896183812.

rs1489618381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:170959502 (GRCh38)
1:170928643 (GRCh37)
Canonical SPDI:: NC_000001.11:170959501:A:C,NC_000001.11:170959501:A:G
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.170959502A>C, NC_000001.11:g.170959502A>G, NC_000001.10:g.170928643A>C, NC_000001.10:g.170928643A>G, NM_025063.4:c.193A>C, NM_025063.4:c.193A>G, NM_025063.3:c.193A>C, NM_025063.3:c.193A>G, NM_025063.2:c.193A>C, NM_025063.2:c.193A>G, XM_011510005.3:c.193A>C, XM_011510005.3:c.193A>G, XM_011510005.2:c.193A>C, XM_011510005.2:c.193A>G, XM_011510005.1:c.193A>C, XM_011510005.1:c.193A>G, XM_011510006.3:c.193A>C, XM_011510006.3:c.193A>G, XM_011510006.2:c.193A>C, XM_011510006.2:c.193A>G, XM_011510006.1:c.193A>C, XM_011510006.1:c.193A>G, NM_001163629.2:c.193A>C, NM_001163629.2:c.193A>G, NM_001163629.1:c.193A>C, NM_001163629.1:c.193A>G, NP_079339.2:p.Ile65Leu, NP_079339.2:p.Ile65Val, XP_011508307.1:p.Ile65Leu, XP_011508307.1:p.Ile65Val, XP_011508308.1:p.Ile65Leu, XP_011508308.1:p.Ile65Val, NP_001157101.1:p.Ile65Leu, NP_001157101.1:p.Ile65Val

Select item 14877411273.

rs1487741127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170958488 (GRCh38)
1:170927629 (GRCh37)
Canonical SPDI:: NC_000001.11:170958487:G:A
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.170958488G>A, NC_000001.10:g.170927629G>A, NM_025063.4:c.100G>A, NM_025063.3:c.100G>A, NM_025063.2:c.100G>A, XM_011510005.3:c.100G>A, XM_011510005.2:c.100G>A, XM_011510005.1:c.100G>A, XM_011510006.3:c.100G>A, XM_011510006.2:c.100G>A, XM_011510006.1:c.100G>A, NM_001163629.2:c.100G>A, NM_001163629.1:c.100G>A, NP_079339.2:p.Ala34Thr, XP_011508307.1:p.Ala34Thr, XP_011508308.1:p.Ala34Thr, NP_001157101.1:p.Ala34Thr

Select item 14876599614.

rs1487659961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:170961949 (GRCh38)
1:170931090 (GRCh37)
Canonical SPDI:: NC_000001.11:170961948:A:C
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.170961949A>C, NC_000001.10:g.170931090A>C, NM_025063.4:c.348A>C, NM_025063.3:c.348A>C, NM_025063.2:c.348A>C, XM_011510005.3:c.348A>C, XM_011510005.2:c.348A>C, XM_011510005.1:c.348A>C, XM_011510006.3:c.348A>C, XM_011510006.2:c.348A>C, XM_011510006.1:c.348A>C, NM_001163629.2:c.348A>C, NM_001163629.1:c.348A>C, NP_079339.2:p.Lys116Asn, XP_011508307.1:p.Lys116Asn, XP_011508308.1:p.Lys116Asn, NP_001157101.1:p.Lys116Asn

Select item 14875940805.

rs1487594080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:170983496 (GRCh38)
1:170952637 (GRCh37)
Canonical SPDI:: NC_000001.11:170983495:C:T
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.170983496C>T, NC_000001.10:g.170952637C>T, NM_025063.4:c.691C>T, NM_025063.3:c.691C>T, NM_025063.2:c.691C>T, XM_011510005.3:c.691C>T, XM_011510005.2:c.691C>T, XM_011510005.1:c.691C>T, XM_011510006.3:c.691C>T, XM_011510006.2:c.691C>T, XM_011510006.1:c.691C>T, NM_001163629.2:c.691C>T, NM_001163629.1:c.691C>T, NP_079339.2:p.Pro231Ser, XP_011508307.1:p.Pro231Ser, XP_011508308.1:p.Pro231Ser, NP_001157101.1:p.Pro231Ser

Select item 14874907276.

rs1487490727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:170958536 (GRCh38)
1:170927677 (GRCh37)
Canonical SPDI:: NC_000001.11:170958535:T:C
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.170958536T>C, NC_000001.10:g.170927677T>C, NM_025063.4:c.148T>C, NM_025063.3:c.148T>C, NM_025063.2:c.148T>C, XM_011510005.3:c.148T>C, XM_011510005.2:c.148T>C, XM_011510005.1:c.148T>C, XM_011510006.3:c.148T>C, XM_011510006.2:c.148T>C, XM_011510006.1:c.148T>C, NM_001163629.2:c.148T>C, NM_001163629.1:c.148T>C, NP_079339.2:p.Ser50Pro, XP_011508307.1:p.Ser50Pro, XP_011508308.1:p.Ser50Pro, NP_001157101.1:p.Ser50Pro

Select item 14874660477.

rs1487466047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:171014128 (GRCh38)
1:170983269 (GRCh37)
Canonical SPDI:: NC_000001.11:171014127:C:G,NC_000001.11:171014127:C:T
Gene:: MROH9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171014128C>G, NC_000001.11:g.171014128C>T, NC_000001.10:g.170983269C>G, NC_000001.10:g.170983269C>T, XM_011510005.3:c.1458C>G, XM_011510005.3:c.1458C>T, XM_011510005.2:c.1458C>G, XM_011510005.2:c.1458C>T, XM_011510005.1:c.1458C>G, XM_011510005.1:c.1458C>T, XM_011510006.3:c.1608C>G, XM_011510006.3:c.1608C>T, XM_011510006.2:c.1608C>G, XM_011510006.2:c.1608C>T, XM_011510006.1:c.1608C>G, XM_011510006.1:c.1608C>T, XM_011510007.3:c.663C>G, XM_011510007.3:c.663C>T, XM_011510007.2:c.663C>G, XM_011510007.2:c.663C>T, XM_011510007.1:c.663C>G, XM_011510007.1:c.663C>T, NM_001163629.2:c.1608C>G, NM_001163629.2:c.1608C>T, NM_001163629.1:c.1608C>G, NM_001163629.1:c.1608C>T, XP_011508307.1:p.Asn486Lys, XP_011508308.1:p.Asn536Lys, XP_011508309.1:p.Asn221Lys, NP_001157101.1:p.Asn536Lys

Select item 14874469978.

rs1487446997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170961976 (GRCh38)
1:170931117 (GRCh37)
Canonical SPDI:: NC_000001.11:170961975:G:A
Gene:: MROH9 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.170961976G>A, NC_000001.10:g.170931117G>A, NM_025063.4:c.375G>A, NM_025063.3:c.375G>A, NM_025063.2:c.375G>A, XM_011510005.3:c.375G>A, XM_011510005.2:c.375G>A, XM_011510005.1:c.375G>A, XM_011510006.3:c.375G>A, XM_011510006.2:c.375G>A, XM_011510006.1:c.375G>A, NM_001163629.2:c.375G>A, NM_001163629.1:c.375G>A

Select item 14869789009.

rs1486978900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171062182 (GRCh38)
1:171031323 (GRCh37)
Canonical SPDI:: NC_000001.11:171062181:G:A
Gene:: MROH9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171062182G>A, NC_000001.10:g.171031323G>A, XM_011510005.3:c.2182G>A, XM_011510005.2:c.2182G>A, XM_011510005.1:c.2182G>A, XM_011510006.3:c.2158G>A, XM_011510006.2:c.2158G>A, XM_011510006.1:c.2158G>A, XM_011510007.3:c.1387G>A, XM_011510007.2:c.1387G>A, XM_011510007.1:c.1387G>A, NM_001163629.2:c.2332G>A, NM_001163629.1:c.2332G>A, XP_011508307.1:p.Val728Ile, XP_011508308.1:p.Val720Ile, XP_011508309.1:p.Val463Ile, NP_001157101.1:p.Val778Ile

Select item 148692884910.

rs1486928849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171016172 (GRCh38)
1:170985313 (GRCh37)
Canonical SPDI:: NC_000001.11:171016171:G:A
Gene:: MROH9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.171016172G>A, NC_000001.10:g.170985313G>A, XM_011510005.3:c.1594G>A, XM_011510005.2:c.1594G>A, XM_011510005.1:c.1594G>A, XM_011510007.3:c.799G>A, XM_011510007.2:c.799G>A, XM_011510007.1:c.799G>A, NM_001163629.2:c.1744G>A, NM_001163629.1:c.1744G>A, XP_011508307.1:p.Val532Ile, XP_011508309.1:p.Val267Ile, NP_001157101.1:p.Val582Ile

Select item 148616064011.

rs1486160640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:170989895 (GRCh38)
1:170959036 (GRCh37)
Canonical SPDI:: NC_000001.11:170989894:A:G
Gene:: MROH9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.170989895A>G, NC_000001.10:g.170959036A>G, NM_025063.4:c.920A>G, NM_025063.3:c.920A>G, NM_025063.2:c.920A>G, XM_011510005.3:c.770A>G, XM_011510005.2:c.770A>G, XM_011510005.1:c.770A>G, XM_011510006.3:c.920A>G, XM_011510006.2:c.920A>G, XM_011510006.1:c.920A>G, NM_001163629.2:c.920A>G, NM_001163629.1:c.920A>G, NP_079339.2:p.Asp307Gly, XP_011508307.1:p.Asp257Gly, XP_011508308.1:p.Asp307Gly, NP_001157101.1:p.Asp307Gly

Select item 148615152512.

rs1486151525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:170971773 (GRCh38)
1:170940914 (GRCh37)
Canonical SPDI:: NC_000001.11:170971772:G:A,NC_000001.11:170971772:G:T
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.170971773G>A, NC_000001.11:g.170971773G>T, NC_000001.10:g.170940914G>A, NC_000001.10:g.170940914G>T, NM_025063.4:c.506G>A, NM_025063.4:c.506G>T, NM_025063.3:c.506G>A, NM_025063.3:c.506G>T, NM_025063.2:c.506G>A, NM_025063.2:c.506G>T, XM_011510005.3:c.506G>A, XM_011510005.3:c.506G>T, XM_011510005.2:c.506G>A, XM_011510005.2:c.506G>T, XM_011510005.1:c.506G>A, XM_011510005.1:c.506G>T, XM_011510006.3:c.506G>A, XM_011510006.3:c.506G>T, XM_011510006.2:c.506G>A, XM_011510006.2:c.506G>T, XM_011510006.1:c.506G>A, XM_011510006.1:c.506G>T, NM_001163629.2:c.506G>A, NM_001163629.2:c.506G>T, NM_001163629.1:c.506G>A, NM_001163629.1:c.506G>T, NP_079339.2:p.Gly169Asp, NP_079339.2:p.Gly169Val, XP_011508307.1:p.Gly169Asp, XP_011508307.1:p.Gly169Val, XP_011508308.1:p.Gly169Asp, XP_011508308.1:p.Gly169Val, NP_001157101.1:p.Gly169Asp, NP_001157101.1:p.Gly169Val

Select item 147976068513.

rs1479760685 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:170998206 (GRCh38)
1:170967347 (GRCh37)
Canonical SPDI:: NC_000001.11:170998205:T:
Gene:: MROH9 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.170998206del, NC_000001.10:g.170967347del, NM_025063.4:c.1528del, NM_025063.3:c.1528del, NM_025063.2:c.1528del, XM_011510005.3:c.1378del, XM_011510005.2:c.1378del, XM_011510005.1:c.1378del, XM_011510006.3:c.1528del, XM_011510006.2:c.1528del, XM_011510006.1:c.1528del, XM_011510007.3:c.583del, XM_011510007.2:c.583del, XM_011510007.1:c.583del, NM_001163629.2:c.1528del, NM_001163629.1:c.1528del, NP_079339.2:p.Tyr510fs, XP_011508307.1:p.Tyr460fs, XP_011508308.1:p.Tyr510fs, XP_011508309.1:p.Tyr195fs, NP_001157101.1:p.Tyr510fs

Select item 147747235814.

rs1477472358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:171016281 (GRCh38)
1:170985422 (GRCh37)
Canonical SPDI:: NC_000001.11:171016280:T:G
Gene:: MROH9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171016281T>G, NC_000001.10:g.170985422T>G, XM_011510005.3:c.1703T>G, XM_011510005.2:c.1703T>G, XM_011510005.1:c.1703T>G, XM_011510007.3:c.908T>G, XM_011510007.2:c.908T>G, XM_011510007.1:c.908T>G, NM_001163629.2:c.1853T>G, NM_001163629.1:c.1853T>G, XP_011508307.1:p.Val568Gly, XP_011508309.1:p.Val303Gly, NP_001157101.1:p.Val618Gly

Select item 147668510315.

rs1476685103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170961922 (GRCh38)
1:170931063 (GRCh37)
Canonical SPDI:: NC_000001.11:170961921:G:A
Gene:: MROH9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.170961922G>A, NC_000001.10:g.170931063G>A, NM_025063.4:c.321G>A, NM_025063.3:c.321G>A, NM_025063.2:c.321G>A, XM_011510005.3:c.321G>A, XM_011510005.2:c.321G>A, XM_011510005.1:c.321G>A, XM_011510006.3:c.321G>A, XM_011510006.2:c.321G>A, XM_011510006.1:c.321G>A, NM_001163629.2:c.321G>A, NM_001163629.1:c.321G>A

Select item 147312578716.

rs1473125787 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:171024440 (GRCh38)
1:170993581 (GRCh37)
Canonical SPDI:: NC_000001.11:171024439:TT:T
Gene:: MROH9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171024441del, NC_000001.10:g.170993582del, XM_011510005.3:c.1805del, XM_011510005.2:c.1805del, XM_011510005.1:c.1805del, XM_011510006.3:c.1781del, XM_011510006.2:c.1781del, XM_011510006.1:c.1781del, XM_011510007.3:c.1010del, XM_011510007.2:c.1010del, XM_011510007.1:c.1010del, NM_001163629.2:c.1955del, NM_001163629.1:c.1955del, XP_011508307.1:p.Gln601_Leu602insTer, XP_011508308.1:p.Gln593_Leu594insTer, XP_011508309.1:p.Gln336_Leu337insTer, NP_001157101.1:p.Gln651_Leu652insTer

Select item 147307320017.

rs1473073200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:170998256 (GRCh38)
1:170967397 (GRCh37)
Canonical SPDI:: NC_000001.11:170998255:A:G
Gene:: MROH9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.170998256A>G, NC_000001.10:g.170967397A>G, NM_025063.4:c.1578A>G, NM_025063.3:c.1578A>G, NM_025063.2:c.1578A>G, XM_011510005.3:c.1428A>G, XM_011510005.2:c.1428A>G, XM_011510005.1:c.1428A>G, XM_011510006.3:c.1578A>G, XM_011510006.2:c.1578A>G, XM_011510006.1:c.1578A>G, XM_011510007.3:c.633A>G, XM_011510007.2:c.633A>G, XM_011510007.1:c.633A>G, NM_001163629.2:c.1578A>G, NM_001163629.1:c.1578A>G

Select item 147210677318.

rs1472106773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:171024528 (GRCh38)
1:170993669 (GRCh37)
Canonical SPDI:: NC_000001.11:171024527:A:G
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171024528A>G, NC_000001.10:g.170993669A>G, XM_011510005.3:c.1892A>G, XM_011510005.2:c.1892A>G, XM_011510005.1:c.1892A>G, XM_011510006.3:c.1868A>G, XM_011510006.2:c.1868A>G, XM_011510006.1:c.1868A>G, XM_011510007.3:c.1097A>G, XM_011510007.2:c.1097A>G, XM_011510007.1:c.1097A>G, NM_001163629.2:c.2042A>G, NM_001163629.1:c.2042A>G, XP_011508307.1:p.Asp631Gly, XP_011508308.1:p.Asp623Gly, XP_011508309.1:p.Asp366Gly, NP_001157101.1:p.Asp681Gly

Select item 147131249819.

rs1471312498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:171024537 (GRCh38)
1:170993678 (GRCh37)
Canonical SPDI:: NC_000001.11:171024536:G:A,NC_000001.11:171024536:G:C
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171024537G>A, NC_000001.11:g.171024537G>C, NC_000001.10:g.170993678G>A, NC_000001.10:g.170993678G>C, XM_011510005.3:c.1901G>A, XM_011510005.3:c.1901G>C, XM_011510005.2:c.1901G>A, XM_011510005.2:c.1901G>C, XM_011510005.1:c.1901G>A, XM_011510005.1:c.1901G>C, XM_011510006.3:c.1877G>A, XM_011510006.3:c.1877G>C, XM_011510006.2:c.1877G>A, XM_011510006.2:c.1877G>C, XM_011510006.1:c.1877G>A, XM_011510006.1:c.1877G>C, XM_011510007.3:c.1106G>A, XM_011510007.3:c.1106G>C, XM_011510007.2:c.1106G>A, XM_011510007.2:c.1106G>C, XM_011510007.1:c.1106G>A, XM_011510007.1:c.1106G>C, NM_001163629.2:c.2051G>A, NM_001163629.2:c.2051G>C, NM_001163629.1:c.2051G>A, NM_001163629.1:c.2051G>C, XP_011508307.1:p.Arg634Lys, XP_011508307.1:p.Arg634Thr, XP_011508308.1:p.Arg626Lys, XP_011508308.1:p.Arg626Thr, XP_011508309.1:p.Arg369Lys, XP_011508309.1:p.Arg369Thr, NP_001157101.1:p.Arg684Lys, NP_001157101.1:p.Arg684Thr

Select item 147050972920.

rs1470509729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171024701 (GRCh38)
1:170993842 (GRCh37)
Canonical SPDI:: NC_000001.11:171024700:C:T
Gene:: MROH9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.171024701C>T, NC_000001.10:g.170993842C>T, XM_011510005.3:c.1964C>T, XM_011510005.2:c.1964C>T, XM_011510005.1:c.1964C>T, XM_011510006.3:c.1940C>T, XM_011510006.2:c.1940C>T, XM_011510006.1:c.1940C>T, XM_011510007.3:c.1169C>T, XM_011510007.2:c.1169C>T, XM_011510007.1:c.1169C>T, NM_001163629.2:c.2114C>T, NM_001163629.1:c.2114C>T, XP_011508307.1:p.Ser655Leu, XP_011508308.1:p.Ser647Leu, XP_011508309.1:p.Ser390Leu, NP_001157101.1:p.Ser705Leu

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