SNP Links for Protein (Select 1060099028) - SNP

Links from Protein

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Select item 14833677211.

rs1483367721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42659528 (GRCh38)
1:43125199 (GRCh37)
Canonical SPDI:: NC_000001.11:42659527:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42659528T>C, NC_000001.10:g.43125199T>C, NM_006347.4:c.162T>C, NM_006347.3:c.162T>C, XM_005270362.2:c.162T>C, XM_005270362.1:c.162T>C, NM_001330510.2:c.33T>C, NM_001330510.1:c.33T>C, XM_047430866.1:c.162T>C, XR_007066033.1:n.186A>G, XR_946525.1:n.186T>C, XR_001736915.1:n.186T>C, XR_007063970.1:n.186T>C, XR_001736914.1:n.186T>C, XR_946523.1:n.186T>C, XR_946524.1:n.186T>C, XR_007063973.1:n.100T>C, XR_007063972.1:n.100T>C

Select item 14822556252.

rs1482255625 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:42660900 (GRCh38)
1:43126571 (GRCh37)
Canonical SPDI:: NC_000001.11:42660899:TT:T
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42660901del, NC_000001.10:g.43126572del, NM_006347.4:c.240del, NM_006347.3:c.240del, XM_005270362.2:c.240del, XM_005270362.1:c.240del, NM_001330510.2:c.111del, NM_001330510.1:c.111del, XM_047430866.1:c.240del, XR_946525.1:n.264del, XR_001736915.1:n.264del, XR_007063970.1:n.264del, XR_001736914.1:n.264del, XR_946523.1:n.264del, XR_946524.1:n.264del, XR_007063973.1:n.178del, XR_007063972.1:n.178del, NP_006338.1:p.Asn81fs, XP_005270419.1:p.Asn81fs, NP_001317439.1:p.Asn38fs, XP_047286822.1:p.Asn81fs

Select item 14728046733.

rs1472804673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42666003 (GRCh38)
1:43131674 (GRCh37)
Canonical SPDI:: NC_000001.11:42666002:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42666003T>C, NC_000001.10:g.43131674T>C, NM_006347.4:c.360T>C, NM_006347.3:c.360T>C, XM_005270362.2:c.360T>C, XM_005270362.1:c.360T>C, NM_001330510.2:c.231T>C, NM_001330510.1:c.231T>C, XM_047430866.1:c.360T>C, XR_946525.1:n.384T>C, XR_001736915.1:n.384T>C, XR_007063970.1:n.384T>C, XR_001736914.1:n.384T>C, XR_946523.1:n.384T>C, XR_946524.1:n.384T>C, XR_007063973.1:n.298T>C, XR_007063972.1:n.298T>C

Select item 14726770034.

rs1472677003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:42667392 (GRCh38)
1:43133063 (GRCh37)
Canonical SPDI:: NC_000001.11:42667391:G:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.42667392G>C, NC_000001.10:g.43133063G>C, NM_006347.4:c.507G>C, NM_006347.3:c.507G>C, XM_005270362.2:c.507G>C, XM_005270362.1:c.507G>C, NM_001330510.2:c.378G>C, NM_001330510.1:c.378G>C, XM_047430866.1:c.507G>C, XR_946525.1:n.531G>C, XR_001736915.1:n.531G>C, XR_007063970.1:n.531G>C, XR_001736914.1:n.531G>C, XR_946523.1:n.531G>C, XR_946524.1:n.531G>C, XR_007063973.1:n.445G>C, XR_007063972.1:n.445G>C

Select item 14607275255.

rs1460727525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42660882 (GRCh38)
1:43126553 (GRCh37)
Canonical SPDI:: NC_000001.11:42660881:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42660882T>C, NC_000001.10:g.43126553T>C, NM_006347.4:c.221T>C, NM_006347.3:c.221T>C, XM_005270362.2:c.221T>C, XM_005270362.1:c.221T>C, NM_001330510.2:c.92T>C, NM_001330510.1:c.92T>C, XM_047430866.1:c.221T>C, XR_946525.1:n.245T>C, XR_001736915.1:n.245T>C, XR_007063970.1:n.245T>C, XR_001736914.1:n.245T>C, XR_946523.1:n.245T>C, XR_946524.1:n.245T>C, XR_007063973.1:n.159T>C, XR_007063972.1:n.159T>C, NP_006338.1:p.Ile74Thr, XP_005270419.1:p.Ile74Thr, NP_001317439.1:p.Ile31Thr, XP_047286822.1:p.Ile74Thr

Select item 14493231736.

rs1449323173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42666580 (GRCh38)
1:43132251 (GRCh37)
Canonical SPDI:: NC_000001.11:42666579:A:G
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42666580A>G, NC_000001.10:g.43132251A>G, NM_006347.4:c.458A>G, NM_006347.3:c.458A>G, XM_005270362.2:c.458A>G, XM_005270362.1:c.458A>G, NM_001330510.2:c.329A>G, NM_001330510.1:c.329A>G, XM_047430866.1:c.458A>G, XR_946525.1:n.482A>G, XR_001736915.1:n.482A>G, XR_007063970.1:n.482A>G, XR_001736914.1:n.482A>G, XR_946523.1:n.482A>G, XR_946524.1:n.482A>G, XR_007063973.1:n.396A>G, XR_007063972.1:n.396A>G, NP_006338.1:p.Lys153Arg, XP_005270419.1:p.Lys153Arg, NP_001317439.1:p.Lys110Arg, XP_047286822.1:p.Lys153Arg

Select item 14280004347.

rs1428000434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42664881 (GRCh38)
1:43130552 (GRCh37)
Canonical SPDI:: NC_000001.11:42664880:G:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42664881G>A, NC_000001.10:g.43130552G>A, NM_006347.4:c.262G>A, NM_006347.3:c.262G>A, XM_005270362.2:c.262G>A, XM_005270362.1:c.262G>A, NM_001330510.2:c.133G>A, NM_001330510.1:c.133G>A, XM_047430866.1:c.262G>A, XR_946525.1:n.286G>A, XR_001736915.1:n.286G>A, XR_007063970.1:n.286G>A, XR_001736914.1:n.286G>A, XR_946523.1:n.286G>A, XR_946524.1:n.286G>A, XR_007063973.1:n.200G>A, XR_007063972.1:n.200G>A, NP_006338.1:p.Ala88Thr, XP_005270419.1:p.Ala88Thr, NP_001317439.1:p.Ala45Thr, XP_047286822.1:p.Ala88Thr

Select item 14231964538.

rs1423196453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42659546 (GRCh38)
1:43125217 (GRCh37)
Canonical SPDI:: NC_000001.11:42659545:C:T
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42659546C>T, NC_000001.10:g.43125217C>T, NM_006347.4:c.180C>T, NM_006347.3:c.180C>T, XM_005270362.2:c.180C>T, XM_005270362.1:c.180C>T, NM_001330510.2:c.51C>T, NM_001330510.1:c.51C>T, XM_047430866.1:c.180C>T, XR_007066033.1:n.168G>A, XR_946525.1:n.204C>T, XR_001736915.1:n.204C>T, XR_007063970.1:n.204C>T, XR_001736914.1:n.204C>T, XR_946523.1:n.204C>T, XR_946524.1:n.204C>T, XR_007063973.1:n.118C>T, XR_007063972.1:n.118C>T

Select item 14212094579.

rs1421209457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42659533 (GRCh38)
1:43125204 (GRCh37)
Canonical SPDI:: NC_000001.11:42659532:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42659533T>C, NC_000001.10:g.43125204T>C, NM_006347.4:c.167T>C, NM_006347.3:c.167T>C, XM_005270362.2:c.167T>C, XM_005270362.1:c.167T>C, NM_001330510.2:c.38T>C, NM_001330510.1:c.38T>C, XM_047430866.1:c.167T>C, XR_007066033.1:n.181A>G, XR_946525.1:n.191T>C, XR_001736915.1:n.191T>C, XR_007063970.1:n.191T>C, XR_001736914.1:n.191T>C, XR_946523.1:n.191T>C, XR_946524.1:n.191T>C, XR_007063973.1:n.105T>C, XR_007063972.1:n.105T>C, NP_006338.1:p.Val56Ala, XP_005270419.1:p.Val56Ala, NP_001317439.1:p.Val13Ala, XP_047286822.1:p.Val56Ala

Select item 141205838710.

rs1412058387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42666010 (GRCh38)
1:43131681 (GRCh37)
Canonical SPDI:: NC_000001.11:42666009:C:T
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42666010C>T, NC_000001.10:g.43131681C>T, NM_006347.4:c.367C>T, NM_006347.3:c.367C>T, XM_005270362.2:c.367C>T, XM_005270362.1:c.367C>T, NM_001330510.2:c.238C>T, NM_001330510.1:c.238C>T, XM_047430866.1:c.367C>T, XR_946525.1:n.391C>T, XR_001736915.1:n.391C>T, XR_007063970.1:n.391C>T, XR_001736914.1:n.391C>T, XR_946523.1:n.391C>T, XR_946524.1:n.391C>T, XR_007063973.1:n.305C>T, XR_007063972.1:n.305C>T, NP_006338.1:p.Gln123Ter, XP_005270419.1:p.Gln123Ter, NP_001317439.1:p.Gln80Ter, XP_047286822.1:p.Gln123Ter

Select item 141183045111.

rs1411830451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42659542 (GRCh38)
1:43125213 (GRCh37)
Canonical SPDI:: NC_000001.11:42659541:G:T
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,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)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42659542G>T, NC_000001.10:g.43125213G>T, NM_006347.4:c.176G>T, NM_006347.3:c.176G>T, XM_005270362.2:c.176G>T, XM_005270362.1:c.176G>T, NM_001330510.2:c.47G>T, NM_001330510.1:c.47G>T, XM_047430866.1:c.176G>T, XR_007066033.1:n.172C>A, XR_946525.1:n.200G>T, XR_001736915.1:n.200G>T, XR_007063970.1:n.200G>T, XR_001736914.1:n.200G>T, XR_946523.1:n.200G>T, XR_946524.1:n.200G>T, XR_007063973.1:n.114G>T, XR_007063972.1:n.114G>T, NP_006338.1:p.Gly59Val, XP_005270419.1:p.Gly59Val, NP_001317439.1:p.Gly16Val, XP_047286822.1:p.Gly59Val

Select item 141076528012.

rs1410765280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42667393 (GRCh38)
1:43133064 (GRCh37)
Canonical SPDI:: NC_000001.11:42667392:G:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42667393G>A, NC_000001.10:g.43133064G>A, NM_006347.4:c.508G>A, NM_006347.3:c.508G>A, XM_005270362.2:c.508G>A, XM_005270362.1:c.508G>A, NM_001330510.2:c.379G>A, NM_001330510.1:c.379G>A, XM_047430866.1:c.508G>A, XR_946525.1:n.532G>A, XR_001736915.1:n.532G>A, XR_007063970.1:n.532G>A, XR_001736914.1:n.532G>A, XR_946523.1:n.532G>A, XR_946524.1:n.532G>A, XR_007063973.1:n.446G>A, XR_007063972.1:n.446G>A, NP_006338.1:p.Val170Met, XP_005270419.1:p.Val170Met, NP_001317439.1:p.Val127Met, XP_047286822.1:p.Val170Met

Select item 140812209013.

rs1408122090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42666028 (GRCh38)
1:43131699 (GRCh37)
Canonical SPDI:: NC_000001.11:42666027:T:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42666028T>A, NC_000001.10:g.43131699T>A, NM_006347.4:c.385T>A, NM_006347.3:c.385T>A, XM_005270362.2:c.385T>A, XM_005270362.1:c.385T>A, NM_001330510.2:c.256T>A, NM_001330510.1:c.256T>A, XM_047430866.1:c.385T>A, XR_946525.1:n.409T>A, XR_001736915.1:n.409T>A, XR_007063970.1:n.409T>A, XR_001736914.1:n.409T>A, XR_946523.1:n.409T>A, XR_946524.1:n.409T>A, XR_007063973.1:n.323T>A, XR_007063972.1:n.323T>A, NP_006338.1:p.Ser129Thr, XP_005270419.1:p.Ser129Thr, NP_001317439.1:p.Ser86Thr, XP_047286822.1:p.Ser129Thr

Select item 140438926714.

rs1404389267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42666030 (GRCh38)
1:43131701 (GRCh37)
Canonical SPDI:: NC_000001.11:42666029:T:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42666030T>A, NC_000001.10:g.43131701T>A, NM_006347.4:c.387T>A, NM_006347.3:c.387T>A, XM_005270362.2:c.387T>A, XM_005270362.1:c.387T>A, NM_001330510.2:c.258T>A, NM_001330510.1:c.258T>A, XM_047430866.1:c.387T>A, XR_946525.1:n.411T>A, XR_001736915.1:n.411T>A, XR_007063970.1:n.411T>A, XR_001736914.1:n.411T>A, XR_946523.1:n.411T>A, XR_946524.1:n.411T>A, XR_007063973.1:n.325T>A, XR_007063972.1:n.325T>A

Select item 140101797415.

rs1401017974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42666039 (GRCh38)
1:43131710 (GRCh37)
Canonical SPDI:: NC_000001.11:42666038:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42666039T>C, NC_000001.10:g.43131710T>C, NM_006347.4:c.396T>C, NM_006347.3:c.396T>C, XM_005270362.2:c.396T>C, XM_005270362.1:c.396T>C, NM_001330510.2:c.267T>C, NM_001330510.1:c.267T>C, XM_047430866.1:c.396T>C, XR_946525.1:n.420T>C, XR_001736915.1:n.420T>C, XR_007063970.1:n.420T>C, XR_001736914.1:n.420T>C, XR_946523.1:n.420T>C, XR_946524.1:n.420T>C, XR_007063973.1:n.334T>C, XR_007063972.1:n.334T>C

Select item 140012268816.

rs1400122688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42664874 (GRCh38)
1:43130545 (GRCh37)
Canonical SPDI:: NC_000001.11:42664873:T:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42664874T>C, NC_000001.10:g.43130545T>C, NM_006347.4:c.255T>C, NM_006347.3:c.255T>C, XM_005270362.2:c.255T>C, XM_005270362.1:c.255T>C, NM_001330510.2:c.126T>C, NM_001330510.1:c.126T>C, XM_047430866.1:c.255T>C, XR_946525.1:n.279T>C, XR_001736915.1:n.279T>C, XR_007063970.1:n.279T>C, XR_001736914.1:n.279T>C, XR_946523.1:n.279T>C, XR_946524.1:n.279T>C, XR_007063973.1:n.193T>C, XR_007063972.1:n.193T>C

Select item 137572894717.

rs1375728947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42666049 (GRCh38)
1:43131720 (GRCh37)
Canonical SPDI:: NC_000001.11:42666048:G:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42666049G>A, NC_000001.10:g.43131720G>A, NM_006347.4:c.406G>A, NM_006347.3:c.406G>A, XM_005270362.2:c.406G>A, XM_005270362.1:c.406G>A, NM_001330510.2:c.277G>A, NM_001330510.1:c.277G>A, XM_047430866.1:c.406G>A, XR_946525.1:n.430G>A, XR_001736915.1:n.430G>A, XR_007063970.1:n.430G>A, XR_001736914.1:n.430G>A, XR_946523.1:n.430G>A, XR_946524.1:n.430G>A, XR_007063973.1:n.344G>A, XR_007063972.1:n.344G>A, NP_006338.1:p.Gly136Arg, XP_005270419.1:p.Gly136Arg, NP_001317439.1:p.Gly93Arg, XP_047286822.1:p.Gly136Arg

Select item 136696081318.

rs1366960813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42659358 (GRCh38)
1:43125029 (GRCh37)
Canonical SPDI:: NC_000001.11:42659357:A:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42659358A>C, NC_000001.10:g.43125029A>C, NM_001330510.2:c.14A>C, NM_001330510.1:c.14A>C, XR_007066033.1:n.356T>G, XR_007063973.1:n.81A>C, XR_007063972.1:n.81A>C, NP_001317439.1:p.Asp5Ala

Select item 136257362019.

rs1362573620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:42664878 (GRCh38)
1:43130549 (GRCh37)
Canonical SPDI:: NC_000001.11:42664877:G:C
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42664878G>C, NC_000001.10:g.43130549G>C, NM_006347.4:c.259G>C, NM_006347.3:c.259G>C, XM_005270362.2:c.259G>C, XM_005270362.1:c.259G>C, NM_001330510.2:c.130G>C, NM_001330510.1:c.130G>C, XM_047430866.1:c.259G>C, XR_946525.1:n.283G>C, XR_001736915.1:n.283G>C, XR_007063970.1:n.283G>C, XR_001736914.1:n.283G>C, XR_946523.1:n.283G>C, XR_946524.1:n.283G>C, XR_007063973.1:n.197G>C, XR_007063972.1:n.197G>C, NP_006338.1:p.Val87Leu, XP_005270419.1:p.Val87Leu, NP_001317439.1:p.Val44Leu, XP_047286822.1:p.Val87Leu

Select item 134172396620.

rs1341723966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42659363 (GRCh38)
1:43125034 (GRCh37)
Canonical SPDI:: NC_000001.11:42659362:G:A
Gene:: PPIH (Varview), LOC124904162 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42659363G>A, NC_000001.10:g.43125034G>A, NM_001330510.2:c.19G>A, NM_001330510.1:c.19G>A, XR_007066033.1:n.351C>T, XR_007063973.1:n.86G>A, XR_007063972.1:n.86G>A, NP_001317439.1:p.Asp7Asn

dbSNP

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