SNP Links for Protein (Select 31791024) - SNP

Links from Protein

Items: 1 to 20 of 79

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Select item 14902174611.

rs1490217461 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 21:30541672 (GRCh38)
21:31913992 (GRCh37)
Canonical SPDI:: NC_000021.9:30541672:AA:AAA
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.30541674dup, NC_000021.8:g.31913993dup, NM_181612.3:c.161dup, NM_181612.2:c.161dup, NP_853643.1:p.Ser55fs

Select item 14765943892.

rs1476594389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541745 (GRCh38)
21:31914064 (GRCh37)
Canonical SPDI:: NC_000021.9:30541744:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_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_000021.9:g.30541745T>C, NC_000021.8:g.31914064T>C, NM_181612.3:c.89A>G, NM_181612.2:c.89A>G, NP_853643.1:p.Tyr30Cys

Select item 14283326333.

rs1428332633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30541770 (GRCh38)
21:31914089 (GRCh37)
Canonical SPDI:: NC_000021.9:30541769:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30541770C>T, NC_000021.8:g.31914089C>T, NM_181612.3:c.64G>A, NM_181612.2:c.64G>A, NP_853643.1:p.Gly22Ser

Select item 14099666344.

rs1409966634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30541716 (GRCh38)
21:31914035 (GRCh37)
Canonical SPDI:: NC_000021.9:30541715:T:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30541716T>G, NC_000021.8:g.31914035T>G, NM_181612.3:c.118A>C, NM_181612.2:c.118A>C

Select item 13915153405.

rs1391515340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541658 (GRCh38)
21:31913977 (GRCh37)
Canonical SPDI:: NC_000021.9:30541657:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541658T>C, NC_000021.8:g.31913977T>C, NM_181612.3:c.176A>G, NM_181612.2:c.176A>G

Select item 13772429056.

rs1377242905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:30541768 (GRCh38)
21:31914087 (GRCh37)
Canonical SPDI:: NC_000021.9:30541767:G:A,NC_000021.9:30541767:G:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30541768G>A, NC_000021.9:g.30541768G>T, NC_000021.8:g.31914087G>A, NC_000021.8:g.31914087G>T, NM_181612.3:c.66C>T, NM_181612.3:c.66C>A, NM_181612.2:c.66C>T, NM_181612.2:c.66C>A

Select item 13721898327.

rs1372189832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30541697 (GRCh38)
21:31914016 (GRCh37)
Canonical SPDI:: NC_000021.9:30541696:G:A
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541697G>A, NC_000021.8:g.31914016G>A, NM_181612.3:c.137C>T, NM_181612.2:c.137C>T, NP_853643.1:p.Pro46Leu

Select item 13663565448.

rs1366356544 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 21:30541664 (GRCh38)
21:31913983 (GRCh37)
Canonical SPDI:: NC_000021.9:30541663:AA:A
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000021.9:g.30541665del, NC_000021.8:g.31913984del, NM_181612.3:c.170del, NM_181612.2:c.170del, NP_853643.1:p.Phe57fs

Select item 13614594479.

rs1361459447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30541775 (GRCh38)
21:31914094 (GRCh37)
Canonical SPDI:: NC_000021.9:30541774:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541775C>T, NC_000021.8:g.31914094C>T, NM_181612.3:c.59G>A, NM_181612.2:c.59G>A, NP_853643.1:p.Gly20Asp

Select item 136104931410.

rs1361049314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30541724 (GRCh38)
21:31914043 (GRCh37)
Canonical SPDI:: NC_000021.9:30541723:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000021.9:g.30541724C>T, NC_000021.8:g.31914043C>T, NM_181612.3:c.110G>A, NM_181612.2:c.110G>A, NP_853643.1:p.Gly37Glu

Select item 133563809811.

rs1335638098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:30541668 (GRCh38)
21:31913987 (GRCh37)
Canonical SPDI:: NC_000021.9:30541667:C:G,NC_000021.9:30541667:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.30541668C>G, NC_000021.9:g.30541668C>T, NC_000021.8:g.31913987C>G, NC_000021.8:g.31913987C>T, NM_181612.3:c.166G>C, NM_181612.3:c.166G>A, NM_181612.2:c.166G>C, NM_181612.2:c.166G>A, NP_853643.1:p.Gly56Arg, NP_853643.1:p.Gly56Arg

Select item 132324276412.

rs1323242764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30541751 (GRCh38)
21:31914070 (GRCh37)
Canonical SPDI:: NC_000021.9:30541750:C:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30541751C>G, NC_000021.8:g.31914070C>G, NM_181612.3:c.83G>C, NM_181612.2:c.83G>C, NP_853643.1:p.Gly28Ala

Select item 131351813413.

rs1313518134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541693 (GRCh38)
21:31914012 (GRCh37)
Canonical SPDI:: NC_000021.9:30541692:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: synonymous_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_000021.9:g.30541693T>C, NC_000021.8:g.31914012T>C, NM_181612.3:c.141A>G, NM_181612.2:c.141A>G

Select item 130902426314.

rs1309024263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541661 (GRCh38)
21:31913980 (GRCh37)
Canonical SPDI:: NC_000021.9:30541660:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541661T>C, NC_000021.8:g.31913980T>C, NM_181612.3:c.173A>G, NM_181612.2:c.173A>G, NP_853643.1:p.Tyr58Cys

Select item 130716319715.

rs1307163197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30541727 (GRCh38)
21:31914046 (GRCh37)
Canonical SPDI:: NC_000021.9:30541726:T:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00009/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541727T>C, NC_000021.8:g.31914046T>C, NM_181612.3:c.107A>G, NM_181612.2:c.107A>G, NP_853643.1:p.Tyr36Cys

Select item 129788780016.

rs1297887800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30541713 (GRCh38)
21:31914032 (GRCh37)
Canonical SPDI:: NC_000021.9:30541712:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30541713A>G, NC_000021.8:g.31914032A>G, NM_181612.3:c.121T>C, NM_181612.2:c.121T>C, NP_853643.1:p.Tyr41His

Select item 128809243817.

rs1288092438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:30541771 (GRCh38)
21:31914090 (GRCh37)
Canonical SPDI:: NC_000021.9:30541770:C:G,NC_000021.9:30541770:C:T
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30541771C>G, NC_000021.9:g.30541771C>T, NC_000021.8:g.31914090C>G, NC_000021.8:g.31914090C>T, NM_181612.3:c.63G>C, NM_181612.3:c.63G>A, NM_181612.2:c.63G>C, NM_181612.2:c.63G>A

Select item 128162398418.

rs1281623984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30541795 (GRCh38)
21:31914114 (GRCh37)
Canonical SPDI:: NC_000021.9:30541794:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541795A>G, NC_000021.8:g.31914114A>G, NM_181612.3:c.39T>C, NM_181612.2:c.39T>C

Select item 127765691619.

rs1277656916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30541812 (GRCh38)
21:31914131 (GRCh37)
Canonical SPDI:: NC_000021.9:30541811:A:G
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30541812A>G, NC_000021.8:g.31914131A>G, NM_181612.3:c.22T>C, NM_181612.2:c.22T>C, NP_853643.1:p.Tyr8His

Select item 126051276420.

rs1260512764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30541810 (GRCh38)
21:31914129 (GRCh37)
Canonical SPDI:: NC_000021.9:30541809:G:C
Gene:: KRTAP19-6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30541810G>C, NC_000021.8:g.31914129G>C, NM_181612.3:c.24C>G, NM_181612.2:c.24C>G, NP_853643.1:p.Tyr8Ter

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