SNP Links for Protein (Select 767995164) - SNP

Links from Protein

Items: 1 to 20 of 587

<< First< Prev

Page of 30

Next >Last >>

Select item 14889980751.

rs1488998075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:58206296 (GRCh38)
17:56283657 (GRCh37)
Canonical SPDI:: NC_000017.11:58206295:A:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58206296A>T, NC_000017.10:g.56283657A>T, NG_013032.1:g.18310T>A, NM_017777.4:c.1575T>A, NM_017777.3:c.1575T>A, NM_001321269.2:c.1492T>A, NM_001321269.1:c.1492T>A, NM_001321268.2:c.966T>A, NM_001321268.1:c.966T>A, NM_001330397.2:c.1358T>A, NM_001330397.1:c.1358T>A, NM_001165927.1:c.1545T>A, NG_013020.1:g.18569A>T, XM_005257485.5:c.1063T>A, XM_005257485.4:c.1063T>A, XM_005257485.3:c.1063T>A, XM_005257485.2:c.1063T>A, XM_005257485.1:c.1063T>A, XM_011524958.3:c.1584T>A, XM_011524958.2:c.1584T>A, XM_011524958.1:c.1584T>A, XM_011524957.3:c.1501T>A, XM_011524957.2:c.1501T>A, XM_011524957.1:c.1501T>A, XM_047436333.1:c.883T>A, NP_001308198.1:p.Ser498Thr, NP_001317326.1:p.Phe453Tyr, XP_005257542.1:p.Ser355Thr, XP_011523259.1:p.Ser501Thr, XP_047292289.1:p.Ser295Thr

Select item 14889388212.

rs1488938821 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCTCT>- [Show Flanks]
Chromosome:: 17:58207939 (GRCh38)
17:56285300 (GRCh37)
Canonical SPDI:: NC_000017.11:58207937:TACCTCT:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58207939_58207944del, NC_000017.10:g.56285300_56285305del, NG_013032.1:g.16663_16668del, NM_017777.4:c.1224_1229del, NM_017777.3:c.1224_1229del, NM_001321269.2:c.1224_1229del, NM_001321269.1:c.1224_1229del, NM_001321268.2:c.615_620del, NM_001321268.1:c.615_620del, NM_001330397.2:c.1224_1229del, NM_001330397.1:c.1224_1229del, NM_001165927.1:c.1194_1199del, XM_005257485.5:c.795_800del, XM_005257485.4:c.795_800del, XM_005257485.3:c.795_800del, XM_005257485.2:c.795_800del, XM_005257485.1:c.795_800del, XM_011524958.3:c.1233_1238del, XM_011524958.2:c.1233_1238del, XM_011524958.1:c.1233_1238del, XM_011524957.3:c.1233_1238del, XM_011524957.2:c.1233_1238del, XM_011524957.1:c.1233_1238del, XM_011524960.3:c.1233_1238del, XM_011524960.2:c.1233_1238del, XM_011524960.1:c.1233_1238del, XM_017024804.3:c.1224_1229del, XM_047436333.1:c.615_620del, NM_001411113.1:c.1224_1229del, NP_060247.2:p.Gln408_Tyr410delinsHis, NP_001308198.1:p.Gln408_Tyr410delinsHis, NP_001308197.1:p.Gln205_Tyr207delinsHis, NP_001317326.1:p.Gln408_Tyr410delinsHis, XP_005257542.1:p.Gln265_Tyr267delinsHis, XP_011523260.1:p.Gln411_Tyr413delinsHis, XP_011523259.1:p.Gln411_Tyr413delinsHis, XP_011523262.1:p.Gln411_Tyr413delinsHis, XP_016880293.1:p.Gln408_Tyr410delinsHis, XP_047292289.1:p.Gln205_Tyr207delinsHis

Select item 14889246143.

rs1488924614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58216684 (GRCh38)
17:56294045 (GRCh37)
Canonical SPDI:: NC_000017.11:58216683:C:T
Gene:: MKS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58216684C>T, NC_000017.10:g.56294045C>T, NG_013032.1:g.7922G>A, NM_017777.4:c.243G>A, NM_017777.3:c.243G>A, NM_001321269.2:c.243G>A, NM_001321269.1:c.243G>A, NM_001321268.2:c.-269G>A, NM_001321268.1:c.-269G>A, NM_001330397.2:c.243G>A, NM_001330397.1:c.243G>A, NM_001165927.1:c.213G>A, XM_011524958.3:c.252G>A, XM_011524958.2:c.252G>A, XM_011524958.1:c.252G>A, XM_011524957.3:c.252G>A, XM_011524957.2:c.252G>A, XM_011524957.1:c.252G>A, XM_011524960.3:c.252G>A, XM_011524960.2:c.252G>A, XM_011524960.1:c.252G>A, XM_017024804.3:c.243G>A, NM_001411113.1:c.243G>A, XM_047436334.1:c.252G>A, XM_047436335.1:c.243G>A

Select item 14887055364.

rs1488705536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58218729 (GRCh38)
17:56296090 (GRCh37)
Canonical SPDI:: NC_000017.11:58218728:T:C
Gene:: MKS1 (Varview), LOC105371841 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58218729T>C, NC_000017.10:g.56296090T>C, NG_013032.1:g.5877A>G, NM_017777.4:c.81A>G, NM_017777.3:c.81A>G, NM_001321269.2:c.81A>G, NM_001321269.1:c.81A>G, NM_001321268.2:c.-431A>G, NM_001321268.1:c.-431A>G, NM_001330397.2:c.81A>G, NM_001330397.1:c.81A>G, NM_001165927.1:c.51A>G, XM_011524958.3:c.81A>G, XM_011524958.2:c.81A>G, XM_011524958.1:c.81A>G, XM_011524957.3:c.81A>G, XM_011524957.2:c.81A>G, XM_011524957.1:c.81A>G, XM_011524960.3:c.81A>G, XM_011524960.2:c.81A>G, XM_011524960.1:c.81A>G, XM_017024804.3:c.81A>G, NM_001411113.1:c.81A>G, XM_047436334.1:c.81A>G, XM_047436335.1:c.81A>G

Select item 14815268165.

rs1481526816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58218722 (GRCh38)
17:56296083 (GRCh37)
Canonical SPDI:: NC_000017.11:58218721:G:A
Gene:: MKS1 (Varview), LOC105371841 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.58218722G>A, NC_000017.10:g.56296083G>A, NG_013032.1:g.5884C>T, NM_017777.4:c.88C>T, NM_017777.3:c.88C>T, NM_001321269.2:c.88C>T, NM_001321269.1:c.88C>T, NM_001321268.2:c.-424C>T, NM_001321268.1:c.-424C>T, NM_001330397.2:c.88C>T, NM_001330397.1:c.88C>T, NM_001165927.1:c.58C>T, XM_011524958.3:c.88C>T, XM_011524958.2:c.88C>T, XM_011524958.1:c.88C>T, XM_011524957.3:c.88C>T, XM_011524957.2:c.88C>T, XM_011524957.1:c.88C>T, XM_011524960.3:c.88C>T, XM_011524960.2:c.88C>T, XM_011524960.1:c.88C>T, XM_017024804.3:c.88C>T, NM_001411113.1:c.88C>T, XM_047436334.1:c.88C>T, XM_047436335.1:c.88C>T

Select item 14792171296.

rs1479217129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58214834 (GRCh38)
17:56292195 (GRCh37)
Canonical SPDI:: NC_000017.11:58214833:C:T
Gene:: MKS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58214834C>T, NC_000017.10:g.56292195C>T, NG_013032.1:g.9772G>A, NM_017777.4:c.422G>A, NM_017777.3:c.422G>A, NM_001321269.2:c.422G>A, NM_001321269.1:c.422G>A, NM_001330397.2:c.422G>A, NM_001330397.1:c.422G>A, NM_001165927.1:c.392G>A, XM_005257485.5:c.-8G>A, XM_005257485.4:c.-8G>A, XM_005257485.3:c.-8G>A, XM_005257485.2:c.-8G>A, XM_005257485.1:c.-8G>A, XM_011524958.3:c.431G>A, XM_011524958.2:c.431G>A, XM_011524958.1:c.431G>A, XM_011524957.3:c.431G>A, XM_011524957.2:c.431G>A, XM_011524957.1:c.431G>A, XM_011524960.3:c.431G>A, XM_011524960.2:c.431G>A, XM_011524960.1:c.431G>A, XM_017024804.3:c.422G>A, NM_001411113.1:c.422G>A, XM_047436334.1:c.431G>A, XM_047436335.1:c.422G>A, NP_060247.2:p.Cys141Tyr, NP_001308198.1:p.Cys141Tyr, NP_001317326.1:p.Cys141Tyr, XP_011523260.1:p.Cys144Tyr, XP_011523259.1:p.Cys144Tyr, XP_011523262.1:p.Cys144Tyr, XP_016880293.1:p.Cys141Tyr, XP_047292290.1:p.Cys144Tyr, XP_047292291.1:p.Cys141Tyr

Select item 14746875277.

rs1474687527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:58214331 (GRCh38)
17:56291692 (GRCh37)
Canonical SPDI:: NC_000017.11:58214330:A:T
Gene:: MKS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_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_000017.11:g.58214331A>T, NC_000017.10:g.56291692A>T, NG_013032.1:g.10275T>A, NM_017777.4:c.572T>A, NM_017777.3:c.572T>A, NM_001321269.2:c.572T>A, NM_001321269.1:c.572T>A, NM_001321268.2:c.-38T>A, NM_001321268.1:c.-38T>A, NM_001330397.2:c.572T>A, NM_001330397.1:c.572T>A, NM_001165927.1:c.542T>A, XM_005257485.5:c.143T>A, XM_005257485.4:c.143T>A, XM_005257485.3:c.143T>A, XM_005257485.2:c.143T>A, XM_005257485.1:c.143T>A, XM_011524958.3:c.581T>A, XM_011524958.2:c.581T>A, XM_011524958.1:c.581T>A, XM_011524957.3:c.581T>A, XM_011524957.2:c.581T>A, XM_011524957.1:c.581T>A, XM_011524960.3:c.581T>A, XM_011524960.2:c.581T>A, XM_011524960.1:c.581T>A, XM_017024804.3:c.572T>A, XM_047436333.1:c.-38T>A, NM_001411113.1:c.572T>A, XM_047436334.1:c.581T>A, XM_047436335.1:c.572T>A, NP_060247.2:p.Val191Asp, NP_001308198.1:p.Val191Asp, NP_001317326.1:p.Val191Asp, XP_005257542.1:p.Val48Asp, XP_011523260.1:p.Val194Asp, XP_011523259.1:p.Val194Asp, XP_011523262.1:p.Val194Asp, XP_016880293.1:p.Val191Asp, XP_047292290.1:p.Val194Asp, XP_047292291.1:p.Val191Asp

Select item 14728532738.

rs1472853273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58213766 (GRCh38)
17:56291127 (GRCh37)
Canonical SPDI:: NC_000017.11:58213765:T:C
Gene:: MKS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.58213766T>C, NC_000017.10:g.56291127T>C, NG_013032.1:g.10840A>G, NM_017777.4:c.748A>G, NM_017777.3:c.748A>G, NM_001321269.2:c.748A>G, NM_001321269.1:c.748A>G, NM_001321268.2:c.139A>G, NM_001321268.1:c.139A>G, NM_001330397.2:c.748A>G, NM_001330397.1:c.748A>G, NM_001165927.1:c.718A>G, XM_005257485.5:c.319A>G, XM_005257485.4:c.319A>G, XM_005257485.3:c.319A>G, XM_005257485.2:c.319A>G, XM_005257485.1:c.319A>G, XM_011524958.3:c.757A>G, XM_011524958.2:c.757A>G, XM_011524958.1:c.757A>G, XM_011524957.3:c.757A>G, XM_011524957.2:c.757A>G, XM_011524957.1:c.757A>G, XM_011524960.3:c.757A>G, XM_011524960.2:c.757A>G, XM_011524960.1:c.757A>G, XM_017024804.3:c.748A>G, XM_047436333.1:c.139A>G, NM_001411113.1:c.748A>G, XM_047436334.1:c.757A>G, XM_047436335.1:c.748A>G, NP_060247.2:p.Arg250Gly, NP_001308198.1:p.Arg250Gly, NP_001308197.1:p.Arg47Gly, NP_001317326.1:p.Arg250Gly, XP_005257542.1:p.Arg107Gly, XP_011523260.1:p.Arg253Gly, XP_011523259.1:p.Arg253Gly, XP_011523262.1:p.Arg253Gly, XP_016880293.1:p.Arg250Gly, XP_047292289.1:p.Arg47Gly, XP_047292290.1:p.Arg253Gly, XP_047292291.1:p.Arg250Gly

Select item 14721889019.

rs1472188901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:58214773 (GRCh38)
17:56292134 (GRCh37)
Canonical SPDI:: NC_000017.11:58214772:A:G
Gene:: MKS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.58214773A>G, NC_000017.10:g.56292134A>G, NG_013032.1:g.9833T>C, NM_017777.4:c.483T>C, NM_017777.3:c.483T>C, NM_001321269.2:c.483T>C, NM_001321269.1:c.483T>C, NM_001330397.2:c.483T>C, NM_001330397.1:c.483T>C, NM_001165927.1:c.453T>C, XM_005257485.5:c.54T>C, XM_005257485.4:c.54T>C, XM_005257485.3:c.54T>C, XM_005257485.2:c.54T>C, XM_005257485.1:c.54T>C, XM_011524958.3:c.492T>C, XM_011524958.2:c.492T>C, XM_011524958.1:c.492T>C, XM_011524957.3:c.492T>C, XM_011524957.2:c.492T>C, XM_011524957.1:c.492T>C, XM_011524960.3:c.492T>C, XM_011524960.2:c.492T>C, XM_011524960.1:c.492T>C, XM_017024804.3:c.483T>C, NM_001411113.1:c.483T>C, XM_047436334.1:c.492T>C, XM_047436335.1:c.483T>C

Select item 147195521810.

rs1471955218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:58216128 (GRCh38)
17:56293489 (GRCh37)
Canonical SPDI:: NC_000017.11:58216127:A:G
Gene:: MKS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58216128A>G, NC_000017.10:g.56293489A>G, NG_013032.1:g.8478T>C, NM_017777.4:c.377T>C, NM_017777.3:c.377T>C, NM_001321269.2:c.377T>C, NM_001321269.1:c.377T>C, NM_001321268.2:c.-135T>C, NM_001321268.1:c.-135T>C, NM_001330397.2:c.377T>C, NM_001330397.1:c.377T>C, NM_001165927.1:c.347T>C, XM_005257485.5:c.-113T>C, XM_005257485.4:c.-113T>C, XM_005257485.3:c.-113T>C, XM_005257485.2:c.-113T>C, XM_005257485.1:c.-113T>C, XM_011524958.3:c.386T>C, XM_011524958.2:c.386T>C, XM_011524958.1:c.386T>C, XM_011524957.3:c.386T>C, XM_011524957.2:c.386T>C, XM_011524957.1:c.386T>C, XM_011524960.3:c.386T>C, XM_011524960.2:c.386T>C, XM_011524960.1:c.386T>C, XM_017024804.3:c.377T>C, XM_047436333.1:c.-135T>C, NM_001411113.1:c.377T>C, XM_047436334.1:c.386T>C, XM_047436335.1:c.377T>C, NP_060247.2:p.Phe126Ser, NP_001308198.1:p.Phe126Ser, NP_001317326.1:p.Phe126Ser, XP_011523260.1:p.Phe129Ser, XP_011523259.1:p.Phe129Ser, XP_011523262.1:p.Phe129Ser, XP_016880293.1:p.Phe126Ser, XP_047292290.1:p.Phe129Ser, XP_047292291.1:p.Phe126Ser

Select item 146911034011.

rs1469110340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58214332 (GRCh38)
17:56291693 (GRCh37)
Canonical SPDI:: NC_000017.11:58214331:C:T
Gene:: MKS1 (Varview)
Functional Consequence:: 5_prime_UTR_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58214332C>T, NC_000017.10:g.56291693C>T, NG_013032.1:g.10274G>A, NM_017777.4:c.571G>A, NM_017777.3:c.571G>A, NM_001321269.2:c.571G>A, NM_001321269.1:c.571G>A, NM_001321268.2:c.-39G>A, NM_001321268.1:c.-39G>A, NM_001330397.2:c.571G>A, NM_001330397.1:c.571G>A, NM_001165927.1:c.541G>A, XM_005257485.5:c.142G>A, XM_005257485.4:c.142G>A, XM_005257485.3:c.142G>A, XM_005257485.2:c.142G>A, XM_005257485.1:c.142G>A, XM_011524958.3:c.580G>A, XM_011524958.2:c.580G>A, XM_011524958.1:c.580G>A, XM_011524957.3:c.580G>A, XM_011524957.2:c.580G>A, XM_011524957.1:c.580G>A, XM_011524960.3:c.580G>A, XM_011524960.2:c.580G>A, XM_011524960.1:c.580G>A, XM_017024804.3:c.571G>A, XM_047436333.1:c.-39G>A, NM_001411113.1:c.571G>A, XM_047436334.1:c.580G>A, XM_047436335.1:c.571G>A, NP_060247.2:p.Val191Ile, NP_001308198.1:p.Val191Ile, NP_001317326.1:p.Val191Ile, XP_005257542.1:p.Val48Ile, XP_011523260.1:p.Val194Ile, XP_011523259.1:p.Val194Ile, XP_011523262.1:p.Val194Ile, XP_016880293.1:p.Val191Ile, XP_047292290.1:p.Val194Ile, XP_047292291.1:p.Val191Ile

Select item 146838901012.

rs1468389010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:58207948 (GRCh38)
17:56285309 (GRCh37)
Canonical SPDI:: NC_000017.11:58207947:A:G
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.58207948A>G, NC_000017.10:g.56285309A>G, NG_013032.1:g.16658T>C, NM_017777.4:c.1219T>C, NM_017777.3:c.1219T>C, NM_001321269.2:c.1219T>C, NM_001321269.1:c.1219T>C, NM_001321268.2:c.610T>C, NM_001321268.1:c.610T>C, NM_001330397.2:c.1219T>C, NM_001330397.1:c.1219T>C, NM_001165927.1:c.1189T>C, XM_005257485.5:c.790T>C, XM_005257485.4:c.790T>C, XM_005257485.3:c.790T>C, XM_005257485.2:c.790T>C, XM_005257485.1:c.790T>C, XM_011524958.3:c.1228T>C, XM_011524958.2:c.1228T>C, XM_011524958.1:c.1228T>C, XM_011524957.3:c.1228T>C, XM_011524957.2:c.1228T>C, XM_011524957.1:c.1228T>C, XM_011524960.3:c.1228T>C, XM_011524960.2:c.1228T>C, XM_011524960.1:c.1228T>C, XM_017024804.3:c.1219T>C, XM_047436333.1:c.610T>C, NM_001411113.1:c.1219T>C, NP_060247.2:p.Trp407Arg, NP_001308198.1:p.Trp407Arg, NP_001308197.1:p.Trp204Arg, NP_001317326.1:p.Trp407Arg, XP_005257542.1:p.Trp264Arg, XP_011523260.1:p.Trp410Arg, XP_011523259.1:p.Trp410Arg, XP_011523262.1:p.Trp410Arg, XP_016880293.1:p.Trp407Arg, XP_047292289.1:p.Trp204Arg

Select item 146618623313.

rs1466186233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58216126 (GRCh38)
17:56293487 (GRCh37)
Canonical SPDI:: NC_000017.11:58216125:T:C
Gene:: MKS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000017.11:g.58216126T>C, NC_000017.10:g.56293487T>C, NG_013032.1:g.8480A>G, NM_017777.4:c.379A>G, NM_017777.3:c.379A>G, NM_001321269.2:c.379A>G, NM_001321269.1:c.379A>G, NM_001321268.2:c.-133A>G, NM_001321268.1:c.-133A>G, NM_001330397.2:c.379A>G, NM_001330397.1:c.379A>G, NM_001165927.1:c.349A>G, XM_005257485.5:c.-111A>G, XM_005257485.4:c.-111A>G, XM_005257485.3:c.-111A>G, XM_005257485.2:c.-111A>G, XM_005257485.1:c.-111A>G, XM_011524958.3:c.388A>G, XM_011524958.2:c.388A>G, XM_011524958.1:c.388A>G, XM_011524957.3:c.388A>G, XM_011524957.2:c.388A>G, XM_011524957.1:c.388A>G, XM_011524960.3:c.388A>G, XM_011524960.2:c.388A>G, XM_011524960.1:c.388A>G, XM_017024804.3:c.379A>G, XM_047436333.1:c.-133A>G, NM_001411113.1:c.379A>G, XM_047436334.1:c.388A>G, XM_047436335.1:c.379A>G, NP_060247.2:p.Thr127Ala, NP_001308198.1:p.Thr127Ala, NP_001317326.1:p.Thr127Ala, XP_011523260.1:p.Thr130Ala, XP_011523259.1:p.Thr130Ala, XP_011523262.1:p.Thr130Ala, XP_016880293.1:p.Thr127Ala, XP_047292290.1:p.Thr130Ala, XP_047292291.1:p.Thr127Ala

Select item 146344311414.

rs1463443114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58213068 (GRCh38)
17:56290429 (GRCh37)
Canonical SPDI:: NC_000017.11:58213067:G:T
Gene:: MKS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58213068G>T, NC_000017.10:g.56290429G>T, NG_013032.1:g.11538C>A, NM_017777.4:c.772C>A, NM_017777.3:c.772C>A, NM_001321269.2:c.772C>A, NM_001321269.1:c.772C>A, NM_001321268.2:c.163C>A, NM_001321268.1:c.163C>A, NM_001330397.2:c.772C>A, NM_001330397.1:c.772C>A, NM_001165927.1:c.742C>A, XM_005257485.5:c.343C>A, XM_005257485.4:c.343C>A, XM_005257485.3:c.343C>A, XM_005257485.2:c.343C>A, XM_005257485.1:c.343C>A, XM_011524958.3:c.781C>A, XM_011524958.2:c.781C>A, XM_011524958.1:c.781C>A, XM_011524957.3:c.781C>A, XM_011524957.2:c.781C>A, XM_011524957.1:c.781C>A, XM_011524960.3:c.781C>A, XM_011524960.2:c.781C>A, XM_011524960.1:c.781C>A, XM_017024804.3:c.772C>A, XM_047436333.1:c.163C>A, NM_001411113.1:c.772C>A, XM_047436334.1:c.781C>A, XM_047436335.1:c.772C>A, NP_060247.2:p.Gln258Lys, NP_001308198.1:p.Gln258Lys, NP_001308197.1:p.Gln55Lys, NP_001317326.1:p.Gln258Lys, XP_005257542.1:p.Gln115Lys, XP_011523260.1:p.Gln261Lys, XP_011523259.1:p.Gln261Lys, XP_011523262.1:p.Gln261Lys, XP_016880293.1:p.Gln258Lys, XP_047292289.1:p.Gln55Lys, XP_047292290.1:p.Gln261Lys, XP_047292291.1:p.Gln258Lys

Select item 146330522515.

rs1463305225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58214822 (GRCh38)
17:56292183 (GRCh37)
Canonical SPDI:: NC_000017.11:58214821:G:T
Gene:: MKS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58214822G>T, NC_000017.10:g.56292183G>T, NG_013032.1:g.9784C>A, NM_017777.4:c.434C>A, NM_017777.3:c.434C>A, NM_001321269.2:c.434C>A, NM_001321269.1:c.434C>A, NM_001330397.2:c.434C>A, NM_001330397.1:c.434C>A, NM_001165927.1:c.404C>A, XM_005257485.5:c.5C>A, XM_005257485.4:c.5C>A, XM_005257485.3:c.5C>A, XM_005257485.2:c.5C>A, XM_005257485.1:c.5C>A, XM_011524958.3:c.443C>A, XM_011524958.2:c.443C>A, XM_011524958.1:c.443C>A, XM_011524957.3:c.443C>A, XM_011524957.2:c.443C>A, XM_011524957.1:c.443C>A, XM_011524960.3:c.443C>A, XM_011524960.2:c.443C>A, XM_011524960.1:c.443C>A, XM_017024804.3:c.434C>A, NM_001411113.1:c.434C>A, XM_047436334.1:c.443C>A, XM_047436335.1:c.434C>A, NP_060247.2:p.Thr145Asn, NP_001308198.1:p.Thr145Asn, NP_001317326.1:p.Thr145Asn, XP_005257542.1:p.Thr2Asn, XP_011523260.1:p.Thr148Asn, XP_011523259.1:p.Thr148Asn, XP_011523262.1:p.Thr148Asn, XP_016880293.1:p.Thr145Asn, XP_047292290.1:p.Thr148Asn, XP_047292291.1:p.Thr145Asn

Select item 146079821116.

rs1460798211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58207979 (GRCh38)
17:56285340 (GRCh37)
Canonical SPDI:: NC_000017.11:58207978:C:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58207979C>T, NC_000017.10:g.56285340C>T, NG_013032.1:g.16627G>A, NM_017777.4:c.1188G>A, NM_017777.3:c.1188G>A, NM_001321269.2:c.1188G>A, NM_001321269.1:c.1188G>A, NM_001321268.2:c.579G>A, NM_001321268.1:c.579G>A, NM_001330397.2:c.1188G>A, NM_001330397.1:c.1188G>A, NM_001165927.1:c.1158G>A, XM_005257485.5:c.759G>A, XM_005257485.4:c.759G>A, XM_005257485.3:c.759G>A, XM_005257485.2:c.759G>A, XM_005257485.1:c.759G>A, XM_011524958.3:c.1197G>A, XM_011524958.2:c.1197G>A, XM_011524958.1:c.1197G>A, XM_011524957.3:c.1197G>A, XM_011524957.2:c.1197G>A, XM_011524957.1:c.1197G>A, XM_011524960.3:c.1197G>A, XM_011524960.2:c.1197G>A, XM_011524960.1:c.1197G>A, XM_017024804.3:c.1188G>A, XM_047436333.1:c.579G>A, NM_001411113.1:c.1188G>A

Select item 145821164217.

rs1458211642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58206078 (GRCh38)
17:56283439 (GRCh37)
Canonical SPDI:: NC_000017.11:58206077:G:A
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58206078G>A, NC_000017.10:g.56283439G>A, NG_013032.1:g.18528C>T, NM_017777.4:c.*1C>T, NM_017777.3:c.*1C>T, NM_001321269.2:c.1598C>T, NM_001321269.1:c.1598C>T, NM_001321268.2:c.*1C>T, NM_001321268.1:c.*1C>T, NM_001330397.2:c.*93C>T, NM_001330397.1:c.*93C>T, NM_001165927.1:c.*1C>T, NG_013020.1:g.18351G>A, XM_005257485.5:c.1169C>T, XM_005257485.4:c.1169C>T, XM_005257485.3:c.1169C>T, XM_005257485.2:c.1169C>T, XM_005257485.1:c.1169C>T, XM_011524958.3:c.*1C>T, XM_011524958.2:c.*1C>T, XM_011524958.1:c.*1C>T, XM_011524957.3:c.1607C>T, XM_011524957.2:c.1607C>T, XM_011524957.1:c.1607C>T, XM_047436333.1:c.989C>T, NP_001308198.1:p.Ala533Val, XP_005257542.1:p.Ala390Val, XP_011523259.1:p.Ala536Val, XP_047292289.1:p.Ala330Val

Select item 145783860718.

rs1457838607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:58219151 (GRCh38)
17:56296512 (GRCh37)
Canonical SPDI:: NC_000017.11:58219150:C:A
Gene:: MKS1 (Varview), LOC105371841 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58219151C>A, NC_000017.10:g.56296512C>A, NG_013032.1:g.5455G>T, NM_017777.4:c.80G>T, NM_017777.3:c.80G>T, NM_001321269.2:c.80G>T, NM_001321269.1:c.80G>T, NM_001321268.2:c.-432G>T, NM_001321268.1:c.-432G>T, NM_001330397.2:c.80G>T, NM_001330397.1:c.80G>T, XM_011524958.3:c.80G>T, XM_011524958.2:c.80G>T, XM_011524958.1:c.80G>T, XM_011524957.3:c.80G>T, XM_011524957.2:c.80G>T, XM_011524957.1:c.80G>T, XM_011524960.3:c.80G>T, XM_011524960.2:c.80G>T, XM_011524960.1:c.80G>T, XM_017024804.3:c.80G>T, NM_001411113.1:c.80G>T, XM_047436334.1:c.80G>T, XM_047436335.1:c.80G>T, NP_060247.2:p.Arg27Leu, NP_001308198.1:p.Arg27Leu, NP_001317326.1:p.Arg27Leu, XP_011523260.1:p.Arg27Leu, XP_011523259.1:p.Arg27Leu, XP_011523262.1:p.Arg27Leu, XP_016880293.1:p.Arg27Leu, XP_047292290.1:p.Arg27Leu, XP_047292291.1:p.Arg27Leu

Select item 145724142619.

rs1457241426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58206142 (GRCh38)
17:56283503 (GRCh37)
Canonical SPDI:: NC_000017.11:58206141:C:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.58206142C>T, NC_000017.10:g.56283503C>T, NG_013032.1:g.18464G>A, NM_017777.4:c.1617G>A, NM_017777.3:c.1617G>A, NM_001321269.2:c.1534G>A, NM_001321269.1:c.1534G>A, NM_001321268.2:c.1008G>A, NM_001321268.1:c.1008G>A, NM_001330397.2:c.*29G>A, NM_001330397.1:c.*29G>A, NM_001165927.1:c.1587G>A, NG_013020.1:g.18415C>T, XM_005257485.5:c.1105G>A, XM_005257485.4:c.1105G>A, XM_005257485.3:c.1105G>A, XM_005257485.2:c.1105G>A, XM_005257485.1:c.1105G>A, XM_011524958.3:c.1626G>A, XM_011524958.2:c.1626G>A, XM_011524958.1:c.1626G>A, XM_011524957.3:c.1543G>A, XM_011524957.2:c.1543G>A, XM_011524957.1:c.1543G>A, XM_047436333.1:c.925G>A, NP_060247.2:p.Met539Ile, NP_001308198.1:p.Ala512Thr, NP_001308197.1:p.Met336Ile, XP_005257542.1:p.Ala369Thr, XP_011523260.1:p.Met542Ile, XP_011523259.1:p.Ala515Thr, XP_047292289.1:p.Ala309Thr

Select item 145604797620.

rs1456047976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58206092 (GRCh38)
17:56283453 (GRCh37)
Canonical SPDI:: NC_000017.11:58206091:G:A
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.58206092G>A, NC_000017.10:g.56283453G>A, NG_013032.1:g.18514C>T, NM_017777.4:c.1667C>T, NM_017777.3:c.1667C>T, NM_001321269.2:c.1584C>T, NM_001321269.1:c.1584C>T, NM_001321268.2:c.1058C>T, NM_001321268.1:c.1058C>T, NM_001330397.2:c.*79C>T, NM_001330397.1:c.*79C>T, NM_001165927.1:c.1637C>T, NG_013020.1:g.18365G>A, XM_005257485.5:c.1155C>T, XM_005257485.4:c.1155C>T, XM_005257485.3:c.1155C>T, XM_005257485.2:c.1155C>T, XM_005257485.1:c.1155C>T, XM_011524958.3:c.1676C>T, XM_011524958.2:c.1676C>T, XM_011524958.1:c.1676C>T, XM_011524957.3:c.1593C>T, XM_011524957.2:c.1593C>T, XM_011524957.1:c.1593C>T, XM_047436333.1:c.975C>T, NP_060247.2:p.Thr556Ile, NP_001308197.1:p.Thr353Ile, XP_011523260.1:p.Thr559Ile

<< First< Prev

Page of 30

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 587

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity