SNP Links for Protein (Select 1034568326) - SNP

Select item 14905295001.

rs1490529500 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:48913479 (GRCh38)
10:50121525 (GRCh37)
Canonical SPDI:: NC_000010.11:48913479::A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.48913479_48913480insA, NC_000010.10:g.50121524_50121525insA, XM_011539826.4:c.676_677insT, XM_011539826.3:c.676_677insT, XM_011539826.2:c.676_677insT, XM_011539826.1:c.676_677insT, NM_001006939.4:c.676_677insT, NM_001006939.3:c.676_677insT, XM_017016277.3:c.676_677insT, XM_017016277.2:c.676_677insT, XM_017016277.1:c.676_677insT, XM_011539828.3:c.676_677insT, XM_011539828.2:c.676_677insT, XM_011539828.1:c.676_677insT, XM_017016276.2:c.676_677insT, XM_017016276.1:c.676_677insT, XM_011539822.2:c.676_677insT, XM_011539822.1:c.676_677insT, XM_011539823.2:c.676_677insT, XM_011539823.1:c.676_677insT, NM_001378102.1:c.676_677insT, XP_011538128.1:p.Asn226fs, NP_001006940.3:p.Asn226fs, XP_016871766.1:p.Asn226fs, XP_011538130.1:p.Asn226fs, XP_016871765.1:p.Asn226fs, XP_011538124.1:p.Asn226fs, XP_011538125.1:p.Asn226fs, NP_001365031.1:p.Asn226fs

Select item 14883873612.

rs1488387361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:48913494 (GRCh38)
10:50121539 (GRCh37)
Canonical SPDI:: NC_000010.11:48913493:A:G
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.48913494A>G, NC_000010.10:g.50121539A>G, XM_011539826.4:c.662T>C, XM_011539826.3:c.662T>C, XM_011539826.2:c.662T>C, XM_011539826.1:c.662T>C, NM_001006939.4:c.662T>C, NM_001006939.3:c.662T>C, XM_017016277.3:c.662T>C, XM_017016277.2:c.662T>C, XM_017016277.1:c.662T>C, XM_011539828.3:c.662T>C, XM_011539828.2:c.662T>C, XM_011539828.1:c.662T>C, XM_017016276.2:c.662T>C, XM_017016276.1:c.662T>C, XM_011539822.2:c.662T>C, XM_011539822.1:c.662T>C, XM_011539823.2:c.662T>C, XM_011539823.1:c.662T>C, NM_001378102.1:c.662T>C, XP_011538128.1:p.Leu221Pro, NP_001006940.3:p.Leu221Pro, XP_016871766.1:p.Leu221Pro, XP_011538130.1:p.Leu221Pro, XP_016871765.1:p.Leu221Pro, XP_011538124.1:p.Leu221Pro, XP_011538125.1:p.Leu221Pro, NP_001365031.1:p.Leu221Pro

Select item 14819741053.

rs1481974105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:48913480 (GRCh38)
10:50121525 (GRCh37)
Canonical SPDI:: NC_000010.11:48913479:T:G
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.48913480T>G, NC_000010.10:g.50121525T>G, XM_011539826.4:c.676A>C, XM_011539826.3:c.676A>C, XM_011539826.2:c.676A>C, XM_011539826.1:c.676A>C, NM_001006939.4:c.676A>C, NM_001006939.3:c.676A>C, XM_017016277.3:c.676A>C, XM_017016277.2:c.676A>C, XM_017016277.1:c.676A>C, XM_011539828.3:c.676A>C, XM_011539828.2:c.676A>C, XM_011539828.1:c.676A>C, XM_017016276.2:c.676A>C, XM_017016276.1:c.676A>C, XM_011539822.2:c.676A>C, XM_011539822.1:c.676A>C, XM_011539823.2:c.676A>C, XM_011539823.1:c.676A>C, NM_001378102.1:c.676A>C, XP_011538128.1:p.Asn226His, NP_001006940.3:p.Asn226His, XP_016871766.1:p.Asn226His, XP_011538130.1:p.Asn226His, XP_016871765.1:p.Asn226His, XP_011538124.1:p.Asn226His, XP_011538125.1:p.Asn226His, NP_001365031.1:p.Asn226His

Select item 14741906494.

rs1474190649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:48914012 (GRCh38)
10:50122057 (GRCh37)
Canonical SPDI:: NC_000010.11:48914011:G:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.48914012G>A, NC_000010.10:g.50122057G>A, XM_011539826.4:c.144C>T, XM_011539826.3:c.144C>T, XM_011539826.2:c.144C>T, XM_011539826.1:c.144C>T, NM_001006939.4:c.144C>T, NM_001006939.3:c.144C>T, XM_017016277.3:c.144C>T, XM_017016277.2:c.144C>T, XM_017016277.1:c.144C>T, XM_011539828.3:c.144C>T, XM_011539828.2:c.144C>T, XM_011539828.1:c.144C>T, XM_017016276.2:c.144C>T, XM_017016276.1:c.144C>T, XM_011539822.2:c.144C>T, XM_011539822.1:c.144C>T, XM_011539823.2:c.144C>T, XM_011539823.1:c.144C>T, NM_001378102.1:c.144C>T

Select item 14738378215.

rs1473837821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:48913444 (GRCh38)
10:50121489 (GRCh37)
Canonical SPDI:: NC_000010.11:48913443:G:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.48913444G>A, NC_000010.10:g.50121489G>A, XM_011539826.4:c.712C>T, XM_011539826.3:c.712C>T, XM_011539826.2:c.712C>T, XM_011539826.1:c.712C>T, NM_001006939.4:c.712C>T, NM_001006939.3:c.712C>T, XM_017016277.3:c.712C>T, XM_017016277.2:c.712C>T, XM_017016277.1:c.712C>T, XM_011539828.3:c.712C>T, XM_011539828.2:c.712C>T, XM_011539828.1:c.712C>T, XM_017016276.2:c.712C>T, XM_017016276.1:c.712C>T, XM_011539822.2:c.712C>T, XM_011539822.1:c.712C>T, XM_011539823.2:c.712C>T, XM_011539823.1:c.712C>T, NM_001378102.1:c.712C>T, XP_011538128.1:p.Pro238Ser, NP_001006940.3:p.Pro238Ser, XP_016871766.1:p.Pro238Ser, XP_011538130.1:p.Pro238Ser, XP_016871765.1:p.Pro238Ser, XP_011538124.1:p.Pro238Ser, XP_011538125.1:p.Pro238Ser, NP_001365031.1:p.Pro238Ser

Select item 14729534176.

rs1472953417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:48913482 (GRCh38)
10:50121527 (GRCh37)
Canonical SPDI:: NC_000010.11:48913481:T:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.48913482T>A, NC_000010.10:g.50121527T>A, XM_011539826.4:c.674A>T, XM_011539826.3:c.674A>T, XM_011539826.2:c.674A>T, XM_011539826.1:c.674A>T, NM_001006939.4:c.674A>T, NM_001006939.3:c.674A>T, XM_017016277.3:c.674A>T, XM_017016277.2:c.674A>T, XM_017016277.1:c.674A>T, XM_011539828.3:c.674A>T, XM_011539828.2:c.674A>T, XM_011539828.1:c.674A>T, XM_017016276.2:c.674A>T, XM_017016276.1:c.674A>T, XM_011539822.2:c.674A>T, XM_011539822.1:c.674A>T, XM_011539823.2:c.674A>T, XM_011539823.1:c.674A>T, NM_001378102.1:c.674A>T, XP_011538128.1:p.Lys225Met, NP_001006940.3:p.Lys225Met, XP_016871766.1:p.Lys225Met, XP_011538130.1:p.Lys225Met, XP_016871765.1:p.Lys225Met, XP_011538124.1:p.Lys225Met, XP_011538125.1:p.Lys225Met, NP_001365031.1:p.Lys225Met

Select item 14718791817.

rs1471879181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:48914097 (GRCh38)
10:50122142 (GRCh37)
Canonical SPDI:: NC_000010.11:48914096:T:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.48914097T>A, NC_000010.10:g.50122142T>A, XM_011539826.4:c.59A>T, XM_011539826.3:c.59A>T, XM_011539826.2:c.59A>T, XM_011539826.1:c.59A>T, NM_001006939.4:c.59A>T, NM_001006939.3:c.59A>T, XM_017016277.3:c.59A>T, XM_017016277.2:c.59A>T, XM_017016277.1:c.59A>T, XM_011539828.3:c.59A>T, XM_011539828.2:c.59A>T, XM_011539828.1:c.59A>T, XM_017016276.2:c.59A>T, XM_017016276.1:c.59A>T, XM_011539822.2:c.59A>T, XM_011539822.1:c.59A>T, XM_011539823.2:c.59A>T, XM_011539823.1:c.59A>T, NM_001378102.1:c.59A>T, XP_011538128.1:p.Asn20Ile, NP_001006940.3:p.Asn20Ile, XP_016871766.1:p.Asn20Ile, XP_011538130.1:p.Asn20Ile, XP_016871765.1:p.Asn20Ile, XP_011538124.1:p.Asn20Ile, XP_011538125.1:p.Asn20Ile, NP_001365031.1:p.Asn20Ile

Select item 14674661168.

rs1467466116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:48913670 (GRCh38)
10:50121715 (GRCh37)
Canonical SPDI:: NC_000010.11:48913669:G:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.48913670G>A, NC_000010.10:g.50121715G>A, XM_011539826.4:c.486C>T, XM_011539826.3:c.486C>T, XM_011539826.2:c.486C>T, XM_011539826.1:c.486C>T, NM_001006939.4:c.486C>T, NM_001006939.3:c.486C>T, XM_017016277.3:c.486C>T, XM_017016277.2:c.486C>T, XM_017016277.1:c.486C>T, XM_011539828.3:c.486C>T, XM_011539828.2:c.486C>T, XM_011539828.1:c.486C>T, XM_017016276.2:c.486C>T, XM_017016276.1:c.486C>T, XM_011539822.2:c.486C>T, XM_011539822.1:c.486C>T, XM_011539823.2:c.486C>T, XM_011539823.1:c.486C>T, NM_001378102.1:c.486C>T

Select item 14663256719.

rs1466325671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:48913971 (GRCh38)
10:50122016 (GRCh37)
Canonical SPDI:: NC_000010.11:48913970:A:T
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.48913971A>T, NC_000010.10:g.50122016A>T, XM_011539826.4:c.185T>A, XM_011539826.3:c.185T>A, XM_011539826.2:c.185T>A, XM_011539826.1:c.185T>A, NM_001006939.4:c.185T>A, NM_001006939.3:c.185T>A, XM_017016277.3:c.185T>A, XM_017016277.2:c.185T>A, XM_017016277.1:c.185T>A, XM_011539828.3:c.185T>A, XM_011539828.2:c.185T>A, XM_011539828.1:c.185T>A, XM_017016276.2:c.185T>A, XM_017016276.1:c.185T>A, XM_011539822.2:c.185T>A, XM_011539822.1:c.185T>A, XM_011539823.2:c.185T>A, XM_011539823.1:c.185T>A, NM_001378102.1:c.185T>A, XP_011538128.1:p.Ile62Asn, NP_001006940.3:p.Ile62Asn, XP_016871766.1:p.Ile62Asn, XP_011538130.1:p.Ile62Asn, XP_016871765.1:p.Ile62Asn, XP_011538124.1:p.Ile62Asn, XP_011538125.1:p.Ile62Asn, NP_001365031.1:p.Ile62Asn

Select item 146452162410.

rs1464521624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:48913928 (GRCh38)
10:50121973 (GRCh37)
Canonical SPDI:: NC_000010.11:48913927:C:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.48913928C>A, NC_000010.10:g.50121973C>A, XM_011539826.4:c.228G>T, XM_011539826.3:c.228G>T, XM_011539826.2:c.228G>T, XM_011539826.1:c.228G>T, NM_001006939.4:c.228G>T, NM_001006939.3:c.228G>T, XM_017016277.3:c.228G>T, XM_017016277.2:c.228G>T, XM_017016277.1:c.228G>T, XM_011539828.3:c.228G>T, XM_011539828.2:c.228G>T, XM_011539828.1:c.228G>T, XM_017016276.2:c.228G>T, XM_017016276.1:c.228G>T, XM_011539822.2:c.228G>T, XM_011539822.1:c.228G>T, XM_011539823.2:c.228G>T, XM_011539823.1:c.228G>T, NM_001378102.1:c.228G>T

Select item 146442695811.

rs1464426958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:48913732 (GRCh38)
10:50121777 (GRCh37)
Canonical SPDI:: NC_000010.11:48913731:C:A,NC_000010.11:48913731:C:T
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.48913732C>A, NC_000010.11:g.48913732C>T, NC_000010.10:g.50121777C>A, NC_000010.10:g.50121777C>T, XM_011539826.4:c.424G>T, XM_011539826.4:c.424G>A, XM_011539826.3:c.424G>T, XM_011539826.3:c.424G>A, XM_011539826.2:c.424G>T, XM_011539826.2:c.424G>A, XM_011539826.1:c.424G>T, XM_011539826.1:c.424G>A, NM_001006939.4:c.424G>T, NM_001006939.4:c.424G>A, NM_001006939.3:c.424G>T, NM_001006939.3:c.424G>A, XM_017016277.3:c.424G>T, XM_017016277.3:c.424G>A, XM_017016277.2:c.424G>T, XM_017016277.2:c.424G>A, XM_017016277.1:c.424G>T, XM_017016277.1:c.424G>A, XM_011539828.3:c.424G>T, XM_011539828.3:c.424G>A, XM_011539828.2:c.424G>T, XM_011539828.2:c.424G>A, XM_011539828.1:c.424G>T, XM_011539828.1:c.424G>A, XM_017016276.2:c.424G>T, XM_017016276.2:c.424G>A, XM_017016276.1:c.424G>T, XM_017016276.1:c.424G>A, XM_011539822.2:c.424G>T, XM_011539822.2:c.424G>A, XM_011539822.1:c.424G>T, XM_011539822.1:c.424G>A, XM_011539823.2:c.424G>T, XM_011539823.2:c.424G>A, XM_011539823.1:c.424G>T, XM_011539823.1:c.424G>A, NM_001378102.1:c.424G>T, NM_001378102.1:c.424G>A, XP_011538128.1:p.Ala142Ser, XP_011538128.1:p.Ala142Thr, NP_001006940.3:p.Ala142Ser, NP_001006940.3:p.Ala142Thr, XP_016871766.1:p.Ala142Ser, XP_016871766.1:p.Ala142Thr, XP_011538130.1:p.Ala142Ser, XP_011538130.1:p.Ala142Thr, XP_016871765.1:p.Ala142Ser, XP_016871765.1:p.Ala142Thr, XP_011538124.1:p.Ala142Ser, XP_011538124.1:p.Ala142Thr, XP_011538125.1:p.Ala142Ser, XP_011538125.1:p.Ala142Thr, NP_001365031.1:p.Ala142Ser, NP_001365031.1:p.Ala142Thr

Select item 146388159812.

rs1463881598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:48913502 (GRCh38)
10:50121547 (GRCh37)
Canonical SPDI:: NC_000010.11:48913501:C:G
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.48913502C>G, NC_000010.10:g.50121547C>G, XM_011539826.4:c.654G>C, XM_011539826.3:c.654G>C, XM_011539826.2:c.654G>C, XM_011539826.1:c.654G>C, NM_001006939.4:c.654G>C, NM_001006939.3:c.654G>C, XM_017016277.3:c.654G>C, XM_017016277.2:c.654G>C, XM_017016277.1:c.654G>C, XM_011539828.3:c.654G>C, XM_011539828.2:c.654G>C, XM_011539828.1:c.654G>C, XM_017016276.2:c.654G>C, XM_017016276.1:c.654G>C, XM_011539822.2:c.654G>C, XM_011539822.1:c.654G>C, XM_011539823.2:c.654G>C, XM_011539823.1:c.654G>C, NM_001378102.1:c.654G>C

Select item 145939353613.

rs1459393536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:48913865 (GRCh38)
10:50121910 (GRCh37)
Canonical SPDI:: NC_000010.11:48913864:G:C
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.48913865G>C, NC_000010.10:g.50121910G>C, XM_011539826.4:c.291C>G, XM_011539826.3:c.291C>G, XM_011539826.2:c.291C>G, XM_011539826.1:c.291C>G, NM_001006939.4:c.291C>G, NM_001006939.3:c.291C>G, XM_017016277.3:c.291C>G, XM_017016277.2:c.291C>G, XM_017016277.1:c.291C>G, XM_011539828.3:c.291C>G, XM_011539828.2:c.291C>G, XM_011539828.1:c.291C>G, XM_017016276.2:c.291C>G, XM_017016276.1:c.291C>G, XM_011539822.2:c.291C>G, XM_011539822.1:c.291C>G, XM_011539823.2:c.291C>G, XM_011539823.1:c.291C>G, NM_001378102.1:c.291C>G, XP_011538128.1:p.Ser97Arg, NP_001006940.3:p.Ser97Arg, XP_016871766.1:p.Ser97Arg, XP_011538130.1:p.Ser97Arg, XP_016871765.1:p.Ser97Arg, XP_011538124.1:p.Ser97Arg, XP_011538125.1:p.Ser97Arg, NP_001365031.1:p.Ser97Arg

Select item 145748598514.

rs1457485985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:48913659 (GRCh38)
10:50121704 (GRCh37)
Canonical SPDI:: NC_000010.11:48913658:A:T
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.48913659A>T, NC_000010.10:g.50121704A>T, XM_011539826.4:c.497T>A, XM_011539826.3:c.497T>A, XM_011539826.2:c.497T>A, XM_011539826.1:c.497T>A, NM_001006939.4:c.497T>A, NM_001006939.3:c.497T>A, XM_017016277.3:c.497T>A, XM_017016277.2:c.497T>A, XM_017016277.1:c.497T>A, XM_011539828.3:c.497T>A, XM_011539828.2:c.497T>A, XM_011539828.1:c.497T>A, XM_017016276.2:c.497T>A, XM_017016276.1:c.497T>A, XM_011539822.2:c.497T>A, XM_011539822.1:c.497T>A, XM_011539823.2:c.497T>A, XM_011539823.1:c.497T>A, NM_001378102.1:c.497T>A, XP_011538128.1:p.Leu166His, NP_001006940.3:p.Leu166His, XP_016871766.1:p.Leu166His, XP_011538130.1:p.Leu166His, XP_016871765.1:p.Leu166His, XP_011538124.1:p.Leu166His, XP_011538125.1:p.Leu166His, NP_001365031.1:p.Leu166His

Select item 145634048615.

rs1456340486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:48913407 (GRCh38)
10:50121452 (GRCh37)
Canonical SPDI:: NC_000010.11:48913406:G:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.48913407G>A, NC_000010.10:g.50121452G>A, XM_011539826.4:c.749C>T, XM_011539826.3:c.749C>T, XM_011539826.2:c.749C>T, XM_011539826.1:c.749C>T, NM_001006939.4:c.749C>T, NM_001006939.3:c.749C>T, XM_017016277.3:c.749C>T, XM_017016277.2:c.749C>T, XM_017016277.1:c.749C>T, XM_011539828.3:c.749C>T, XM_011539828.2:c.749C>T, XM_011539828.1:c.749C>T, XM_017016276.2:c.749C>T, XM_017016276.1:c.749C>T, XM_011539822.2:c.749C>T, XM_011539822.1:c.749C>T, XM_011539823.2:c.749C>T, XM_011539823.1:c.749C>T, NM_001378102.1:c.749C>T, XP_011538128.1:p.Ser250Phe, NP_001006940.3:p.Ser250Phe, XP_016871766.1:p.Ser250Phe, XP_011538130.1:p.Ser250Phe, XP_016871765.1:p.Ser250Phe, XP_011538124.1:p.Ser250Phe, XP_011538125.1:p.Ser250Phe, NP_001365031.1:p.Ser250Phe

Select item 145522411316.

rs1455224113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:48913859 (GRCh38)
10:50121904 (GRCh37)
Canonical SPDI:: NC_000010.11:48913858:G:C
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_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_000010.11:g.48913859G>C, NC_000010.10:g.50121904G>C, XM_011539826.4:c.297C>G, XM_011539826.3:c.297C>G, XM_011539826.2:c.297C>G, XM_011539826.1:c.297C>G, NM_001006939.4:c.297C>G, NM_001006939.3:c.297C>G, XM_017016277.3:c.297C>G, XM_017016277.2:c.297C>G, XM_017016277.1:c.297C>G, XM_011539828.3:c.297C>G, XM_011539828.2:c.297C>G, XM_011539828.1:c.297C>G, XM_017016276.2:c.297C>G, XM_017016276.1:c.297C>G, XM_011539822.2:c.297C>G, XM_011539822.1:c.297C>G, XM_011539823.2:c.297C>G, XM_011539823.1:c.297C>G, NM_001378102.1:c.297C>G

Select item 145454823017.

rs1454548230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:48913910 (GRCh38)
10:50121955 (GRCh37)
Canonical SPDI:: NC_000010.11:48913909:G:T
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.48913910G>T, NC_000010.10:g.50121955G>T, XM_011539826.4:c.246C>A, XM_011539826.3:c.246C>A, XM_011539826.2:c.246C>A, XM_011539826.1:c.246C>A, NM_001006939.4:c.246C>A, NM_001006939.3:c.246C>A, XM_017016277.3:c.246C>A, XM_017016277.2:c.246C>A, XM_017016277.1:c.246C>A, XM_011539828.3:c.246C>A, XM_011539828.2:c.246C>A, XM_011539828.1:c.246C>A, XM_017016276.2:c.246C>A, XM_017016276.1:c.246C>A, XM_011539822.2:c.246C>A, XM_011539822.1:c.246C>A, XM_011539823.2:c.246C>A, XM_011539823.1:c.246C>A, NM_001378102.1:c.246C>A, XP_011538128.1:p.Ser82Arg, NP_001006940.3:p.Ser82Arg, XP_016871766.1:p.Ser82Arg, XP_011538130.1:p.Ser82Arg, XP_016871765.1:p.Ser82Arg, XP_011538124.1:p.Ser82Arg, XP_011538125.1:p.Ser82Arg, NP_001365031.1:p.Ser82Arg

Select item 145260828118.

rs1452608281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:48914144 (GRCh38)
10:50122189 (GRCh37)
Canonical SPDI:: NC_000010.11:48914143:A:C,NC_000010.11:48914143:A:G
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.48914144A>C, NC_000010.11:g.48914144A>G, NC_000010.10:g.50122189A>C, NC_000010.10:g.50122189A>G, XM_011539826.4:c.12T>G, XM_011539826.4:c.12T>C, XM_011539826.3:c.12T>G, XM_011539826.3:c.12T>C, XM_011539826.2:c.12T>G, XM_011539826.2:c.12T>C, XM_011539826.1:c.12T>G, XM_011539826.1:c.12T>C, NM_001006939.4:c.12T>G, NM_001006939.4:c.12T>C, NM_001006939.3:c.12T>G, NM_001006939.3:c.12T>C, XM_017016277.3:c.12T>G, XM_017016277.3:c.12T>C, XM_017016277.2:c.12T>G, XM_017016277.2:c.12T>C, XM_017016277.1:c.12T>G, XM_017016277.1:c.12T>C, XM_011539828.3:c.12T>G, XM_011539828.3:c.12T>C, XM_011539828.2:c.12T>G, XM_011539828.2:c.12T>C, XM_011539828.1:c.12T>G, XM_011539828.1:c.12T>C, XM_017016276.2:c.12T>G, XM_017016276.2:c.12T>C, XM_017016276.1:c.12T>G, XM_017016276.1:c.12T>C, XM_011539822.2:c.12T>G, XM_011539822.2:c.12T>C, XM_011539822.1:c.12T>G, XM_011539822.1:c.12T>C, XM_011539823.2:c.12T>G, XM_011539823.2:c.12T>C, XM_011539823.1:c.12T>G, XM_011539823.1:c.12T>C, NM_001378102.1:c.12T>G, NM_001378102.1:c.12T>C

Select item 145145945719.

rs1451459457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:48913846 (GRCh38)
10:50121891 (GRCh37)
Canonical SPDI:: NC_000010.11:48913845:T:C
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.48913846T>C, NC_000010.10:g.50121891T>C, XM_011539826.4:c.310A>G, XM_011539826.3:c.310A>G, XM_011539826.2:c.310A>G, XM_011539826.1:c.310A>G, NM_001006939.4:c.310A>G, NM_001006939.3:c.310A>G, XM_017016277.3:c.310A>G, XM_017016277.2:c.310A>G, XM_017016277.1:c.310A>G, XM_011539828.3:c.310A>G, XM_011539828.2:c.310A>G, XM_011539828.1:c.310A>G, XM_017016276.2:c.310A>G, XM_017016276.1:c.310A>G, XM_011539822.2:c.310A>G, XM_011539822.1:c.310A>G, XM_011539823.2:c.310A>G, XM_011539823.1:c.310A>G, NM_001378102.1:c.310A>G, XP_011538128.1:p.Ser104Gly, NP_001006940.3:p.Ser104Gly, XP_016871766.1:p.Ser104Gly, XP_011538130.1:p.Ser104Gly, XP_016871765.1:p.Ser104Gly, XP_011538124.1:p.Ser104Gly, XP_011538125.1:p.Ser104Gly, NP_001365031.1:p.Ser104Gly

Select item 144752253320.

rs1447522533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:48913894 (GRCh38)
10:50121939 (GRCh37)
Canonical SPDI:: NC_000010.11:48913893:G:A
Gene:: WDFY4 (Varview), LRRC18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.48913894G>A, NC_000010.10:g.50121939G>A, XM_011539826.4:c.262C>T, XM_011539826.3:c.262C>T, XM_011539826.2:c.262C>T, XM_011539826.1:c.262C>T, NM_001006939.4:c.262C>T, NM_001006939.3:c.262C>T, XM_017016277.3:c.262C>T, XM_017016277.2:c.262C>T, XM_017016277.1:c.262C>T, XM_011539828.3:c.262C>T, XM_011539828.2:c.262C>T, XM_011539828.1:c.262C>T, XM_017016276.2:c.262C>T, XM_017016276.1:c.262C>T, XM_011539822.2:c.262C>T, XM_011539822.1:c.262C>T, XM_011539823.2:c.262C>T, XM_011539823.1:c.262C>T, NM_001378102.1:c.262C>T

dbSNP

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Result Filters

Validation Status

Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 338

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