SNP Links for Protein (Select 767995519) - SNP

Variant type:: DELINS
Alleles:: AGG>- [Show Flanks]
Chromosome:: 17:41821816 (GRCh38)
17:39978068 (GRCh37)
Canonical SPDI:: NC_000017.11:41821810:GGAGGAGG:GGAGG
Gene:: FKBP10 (Varview)
Functional Consequence:: coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41821813AGG[1], NC_000017.10:g.39978065AGG[1], NG_015860.1:g.14104AGG[1], NW_003571052.1:g.108455AGG[1]

Select item 144146039816.

rs1441460398 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:41821779 (GRCh38)
17:39978031 (GRCh37)
Canonical SPDI:: NC_000017.11:41821778:AT:
Gene:: FKBP10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41821779_41821780del, NC_000017.10:g.39978031_39978032del, NG_015860.1:g.14070_14071del, NM_021939.4:c.1525_1526del, NM_021939.3:c.1525_1526del, NW_003571052.1:g.108421_108422del, XM_011525099.4:c.1582_1583del, XM_011525099.3:c.1582_1583del, XM_011525099.2:c.1582_1583del, XM_011525099.1:c.1582_1583del, XM_011525100.3:c.1309_1310del, XM_011525100.2:c.1309_1310del, XM_011525100.1:c.1309_1310del, XM_047436515.1:c.1252_1253del, NP_068758.3:p.Met509fs, XP_011523401.1:p.Met528fs, XP_011523402.1:p.Met437fs, XP_047292471.1:p.Met418fs

Select item 143355697817.

rs1433556978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41821683 (GRCh38)
17:39977935 (GRCh37)
Canonical SPDI:: NC_000017.11:41821682:C:T
Gene:: FKBP10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.41821683C>T, NC_000017.10:g.39977935C>T, NG_015860.1:g.13974C>T, NM_021939.4:c.1429C>T, NM_021939.3:c.1429C>T, NW_003571052.1:g.108325C>T, XM_011525099.4:c.1486C>T, XM_011525099.3:c.1486C>T, XM_011525099.2:c.1486C>T, XM_011525099.1:c.1486C>T, XM_011525100.3:c.1213C>T, XM_011525100.2:c.1213C>T, XM_011525100.1:c.1213C>T, XM_047436515.1:c.1156C>T

Select item 143236100318.

rs1432361003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41818225 (GRCh38)
17:39974477 (GRCh37)
Canonical SPDI:: NC_000017.11:41818224:T:C
Gene:: FKBP10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41818225T>C, NC_000017.10:g.39974477T>C, NG_015860.1:g.10516T>C, NM_021939.4:c.528T>C, NM_021939.3:c.528T>C, NW_003571052.1:g.104867T>C, XM_011525099.4:c.528T>C, XM_011525099.3:c.528T>C, XM_011525099.2:c.528T>C, XM_011525099.1:c.528T>C, XM_011525100.3:c.255T>C, XM_011525100.2:c.255T>C, XM_011525100.1:c.255T>C, XM_047436515.1:c.255T>C

Select item 143191948019.

rs1431919480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41818187 (GRCh38)
17:39974439 (GRCh37)
Canonical SPDI:: NC_000017.11:41818186:C:A
Gene:: FKBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41818187C>A, NC_000017.10:g.39974439C>A, NG_015860.1:g.10478C>A, NM_021939.4:c.490C>A, NM_021939.3:c.490C>A, NW_003571052.1:g.104829C>A, XM_011525099.4:c.490C>A, XM_011525099.3:c.490C>A, XM_011525099.2:c.490C>A, XM_011525099.1:c.490C>A, XM_011525100.3:c.217C>A, XM_011525100.2:c.217C>A, XM_011525100.1:c.217C>A, XM_047436515.1:c.217C>A, NP_068758.3:p.Pro164Thr, XP_011523401.1:p.Pro164Thr, XP_011523402.1:p.Pro73Thr, XP_047292471.1:p.Pro73Thr

Select item 142702914620.

rs1427029146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41818436 (GRCh38)
17:39974688 (GRCh37)
Canonical SPDI:: NC_000017.11:41818435:G:A
Gene:: FKBP10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41818436G>A, NC_000017.10:g.39974688G>A, NG_015860.1:g.10727G>A, NM_021939.4:c.636G>A, NM_021939.3:c.636G>A, NW_003571052.1:g.105078G>A, XM_011525099.4:c.636G>A, XM_011525099.3:c.636G>A, XM_011525099.2:c.636G>A, XM_011525099.1:c.636G>A, XM_011525100.3:c.363G>A, XM_011525100.2:c.363G>A, XM_011525100.1:c.363G>A, XM_047436515.1:c.363G>A

dbSNP