SNP Links for Protein (Select 578799204) - SNP

Select item 14832412181.

rs1483241218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42851075 (GRCh38)
1:43316746 (GRCh37)
Canonical SPDI:: NC_000001.11:42851074:G:T
Gene:: ZNF691 (Varview)
Functional Consequence:: 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_000001.11:g.42851075G>T, NC_000001.10:g.43316746G>T, XM_006710671.5:c.198G>T, XM_006710671.4:c.198G>T, XM_006710671.3:c.198G>T, XM_006710671.2:c.198G>T, XM_006710671.1:c.198G>T, NM_015911.4:c.117G>T, NM_015911.3:c.117G>T, XM_017001402.3:c.183G>T, XM_017001402.2:c.183G>T, XM_017001402.1:c.183G>T, NM_001242739.2:c.210G>T, NM_001242739.1:c.210G>T, XM_047421903.1:c.183G>T, XM_047421910.1:c.183G>T, XM_047421899.1:c.210G>T, XP_006710734.1:p.Glu66Asp, NP_056995.1:p.Glu39Asp, XP_016856891.1:p.Glu61Asp, NP_001229668.1:p.Glu70Asp, XP_047277859.1:p.Glu61Asp, XP_047277866.1:p.Glu61Asp, XP_047277855.1:p.Glu70Asp

Select item 14799531212.

rs1479953121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:42851606 (GRCh38)
1:43317277 (GRCh37)
Canonical SPDI:: NC_000001.11:42851605:C:G,NC_000001.11:42851605:C:T
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.42851606C>G, NC_000001.11:g.42851606C>T, NC_000001.10:g.43317277C>G, NC_000001.10:g.43317277C>T, XM_006710671.5:c.729C>G, XM_006710671.5:c.729C>T, XM_006710671.4:c.729C>G, XM_006710671.4:c.729C>T, XM_006710671.3:c.729C>G, XM_006710671.3:c.729C>T, XM_006710671.2:c.729C>G, XM_006710671.2:c.729C>T, XM_006710671.1:c.729C>G, XM_006710671.1:c.729C>T, NM_015911.4:c.648C>G, NM_015911.4:c.648C>T, NM_015911.3:c.648C>G, NM_015911.3:c.648C>T, XM_017001402.3:c.714C>G, XM_017001402.3:c.714C>T, XM_017001402.2:c.714C>G, XM_017001402.2:c.714C>T, XM_017001402.1:c.714C>G, XM_017001402.1:c.714C>T, NM_001242739.2:c.741C>G, NM_001242739.2:c.741C>T, NM_001242739.1:c.741C>G, NM_001242739.1:c.741C>T, XM_047421903.1:c.714C>G, XM_047421903.1:c.714C>T, XM_047421910.1:c.714C>G, XM_047421910.1:c.714C>T, XM_047421899.1:c.741C>G, XM_047421899.1:c.741C>T

Select item 14789758693.

rs1478975869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42851303 (GRCh38)
1:43316974 (GRCh37)
Canonical SPDI:: NC_000001.11:42851302:T:C
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851303T>C, NC_000001.10:g.43316974T>C, XM_006710671.5:c.426T>C, XM_006710671.4:c.426T>C, XM_006710671.3:c.426T>C, XM_006710671.2:c.426T>C, XM_006710671.1:c.426T>C, NM_015911.4:c.345T>C, NM_015911.3:c.345T>C, XM_017001402.3:c.411T>C, XM_017001402.2:c.411T>C, XM_017001402.1:c.411T>C, NM_001242739.2:c.438T>C, NM_001242739.1:c.438T>C, XM_047421903.1:c.411T>C, XM_047421910.1:c.411T>C, XM_047421899.1:c.438T>C

Select item 14757197854.

rs1475719785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42851707 (GRCh38)
1:43317378 (GRCh37)
Canonical SPDI:: NC_000001.11:42851706:A:G
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851707A>G, NC_000001.10:g.43317378A>G, XM_006710671.5:c.830A>G, XM_006710671.4:c.830A>G, XM_006710671.3:c.830A>G, XM_006710671.2:c.830A>G, XM_006710671.1:c.830A>G, NM_015911.4:c.749A>G, NM_015911.3:c.749A>G, XM_017001402.3:c.815A>G, XM_017001402.2:c.815A>G, XM_017001402.1:c.815A>G, NM_001242739.2:c.842A>G, NM_001242739.1:c.842A>G, XM_047421903.1:c.815A>G, XM_047421910.1:c.815A>G, XM_047421899.1:c.842A>G, XP_006710734.1:p.Lys277Arg, NP_056995.1:p.Lys250Arg, XP_016856891.1:p.Lys272Arg, NP_001229668.1:p.Lys281Arg, XP_047277859.1:p.Lys272Arg, XP_047277866.1:p.Lys272Arg, XP_047277855.1:p.Lys281Arg

Select item 14737500925.

rs1473750092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:42851012 (GRCh38)
1:43316684 (GRCh37)
Canonical SPDI:: NC_000001.11:42851012:GGGGG:GGGGGG
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.42851017dup, NC_000001.10:g.43316688dup, XM_006710671.5:c.140dup, XM_006710671.4:c.140dup, XM_006710671.3:c.140dup, XM_006710671.2:c.140dup, XM_006710671.1:c.140dup, NM_015911.4:c.59dup, NM_015911.3:c.59dup, XM_017001402.3:c.125dup, XM_017001402.2:c.125dup, XM_017001402.1:c.125dup, NM_001242739.2:c.152dup, NM_001242739.1:c.152dup, XM_047421903.1:c.125dup, XM_047421910.1:c.125dup, XM_047421899.1:c.152dup, XP_006710734.1:p.Gly47_Lys48insTer, NP_056995.1:p.Gly20_Lys21insTer, XP_016856891.1:p.Gly42_Lys43insTer, NP_001229668.1:p.Gly51_Lys52insTer, XP_047277859.1:p.Gly42_Lys43insTer, XP_047277866.1:p.Gly42_Lys43insTer, XP_047277855.1:p.Gly51_Lys52insTer

Select item 14737214216.

rs1473721421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:42851754 (GRCh38)
1:43317425 (GRCh37)
Canonical SPDI:: NC_000001.11:42851753:A:C,NC_000001.11:42851753:A:G
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.42851754A>C, NC_000001.11:g.42851754A>G, NC_000001.10:g.43317425A>C, NC_000001.10:g.43317425A>G, XM_006710671.5:c.877A>C, XM_006710671.5:c.877A>G, XM_006710671.4:c.877A>C, XM_006710671.4:c.877A>G, XM_006710671.3:c.877A>C, XM_006710671.3:c.877A>G, XM_006710671.2:c.877A>C, XM_006710671.2:c.877A>G, XM_006710671.1:c.877A>C, XM_006710671.1:c.877A>G, NM_015911.4:c.796A>C, NM_015911.4:c.796A>G, NM_015911.3:c.796A>C, NM_015911.3:c.796A>G, XM_017001402.3:c.862A>C, XM_017001402.3:c.862A>G, XM_017001402.2:c.862A>C, XM_017001402.2:c.862A>G, XM_017001402.1:c.862A>C, XM_017001402.1:c.862A>G, NM_001242739.2:c.889A>C, NM_001242739.2:c.889A>G, NM_001242739.1:c.889A>C, NM_001242739.1:c.889A>G, XM_047421903.1:c.862A>C, XM_047421903.1:c.862A>G, XM_047421910.1:c.862A>C, XM_047421910.1:c.862A>G, XM_047421899.1:c.889A>C, XM_047421899.1:c.889A>G, XP_006710734.1:p.Asn293His, XP_006710734.1:p.Asn293Asp, NP_056995.1:p.Asn266His, NP_056995.1:p.Asn266Asp, XP_016856891.1:p.Asn288His, XP_016856891.1:p.Asn288Asp, NP_001229668.1:p.Asn297His, NP_001229668.1:p.Asn297Asp, XP_047277859.1:p.Asn288His, XP_047277859.1:p.Asn288Asp, XP_047277866.1:p.Asn288His, XP_047277866.1:p.Asn288Asp, XP_047277855.1:p.Asn297His, XP_047277855.1:p.Asn297Asp

Select item 14692542947.

rs1469254294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:42851531 (GRCh38)
1:43317202 (GRCh37)
Canonical SPDI:: NC_000001.11:42851530:G:A,NC_000001.11:42851530:G:T
Gene:: ZNF691 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42851531G>A, NC_000001.11:g.42851531G>T, NC_000001.10:g.43317202G>A, NC_000001.10:g.43317202G>T, XM_006710671.5:c.654G>A, XM_006710671.5:c.654G>T, XM_006710671.4:c.654G>A, XM_006710671.4:c.654G>T, XM_006710671.3:c.654G>A, XM_006710671.3:c.654G>T, XM_006710671.2:c.654G>A, XM_006710671.2:c.654G>T, XM_006710671.1:c.654G>A, XM_006710671.1:c.654G>T, NM_015911.4:c.573G>A, NM_015911.4:c.573G>T, NM_015911.3:c.573G>A, NM_015911.3:c.573G>T, XM_017001402.3:c.639G>A, XM_017001402.3:c.639G>T, XM_017001402.2:c.639G>A, XM_017001402.2:c.639G>T, XM_017001402.1:c.639G>A, XM_017001402.1:c.639G>T, NM_001242739.2:c.666G>A, NM_001242739.2:c.666G>T, NM_001242739.1:c.666G>A, NM_001242739.1:c.666G>T, XM_047421903.1:c.639G>A, XM_047421903.1:c.639G>T, XM_047421910.1:c.639G>A, XM_047421910.1:c.639G>T, XM_047421899.1:c.666G>A, XM_047421899.1:c.666G>T

Select item 14668614118.

rs1466861411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:42849362 (GRCh38)
1:43315033 (GRCh37)
Canonical SPDI:: NC_000001.11:42849361:C:G
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42849362C>G, NC_000001.10:g.43315033C>G, XM_006710671.5:c.21C>G, XM_006710671.4:c.21C>G, XM_006710671.3:c.21C>G, XM_006710671.2:c.21C>G, XM_006710671.1:c.21C>G, XM_017001402.3:c.-1325C>G, XM_017001402.2:c.-1325C>G, XM_017001402.1:c.-1325C>G, NM_001242739.2:c.-146C>G, NM_001242739.1:c.-146C>G, XM_047421903.1:c.-1325C>G, XM_047421910.1:c.-1174C>G, XP_006710734.1:p.His7Gln

Select item 14612826129.

rs1461282612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:42851507 (GRCh38)
1:43317178 (GRCh37)
Canonical SPDI:: NC_000001.11:42851506:A:T
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851507A>T, NC_000001.10:g.43317178A>T, XM_006710671.5:c.630A>T, XM_006710671.4:c.630A>T, XM_006710671.3:c.630A>T, XM_006710671.2:c.630A>T, XM_006710671.1:c.630A>T, NM_015911.4:c.549A>T, NM_015911.3:c.549A>T, XM_017001402.3:c.615A>T, XM_017001402.2:c.615A>T, XM_017001402.1:c.615A>T, NM_001242739.2:c.642A>T, NM_001242739.1:c.642A>T, XM_047421903.1:c.615A>T, XM_047421910.1:c.615A>T, XM_047421899.1:c.642A>T

Select item 145996012610.

rs1459960126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:42851196 (GRCh38)
1:43316867 (GRCh37)
Canonical SPDI:: NC_000001.11:42851195:G:A,NC_000001.11:42851195:G:C
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.42851196G>A, NC_000001.11:g.42851196G>C, NC_000001.10:g.43316867G>A, NC_000001.10:g.43316867G>C, XM_006710671.5:c.319G>A, XM_006710671.5:c.319G>C, XM_006710671.4:c.319G>A, XM_006710671.4:c.319G>C, XM_006710671.3:c.319G>A, XM_006710671.3:c.319G>C, XM_006710671.2:c.319G>A, XM_006710671.2:c.319G>C, XM_006710671.1:c.319G>A, XM_006710671.1:c.319G>C, NM_015911.4:c.238G>A, NM_015911.4:c.238G>C, NM_015911.3:c.238G>A, NM_015911.3:c.238G>C, XM_017001402.3:c.304G>A, XM_017001402.3:c.304G>C, XM_017001402.2:c.304G>A, XM_017001402.2:c.304G>C, XM_017001402.1:c.304G>A, XM_017001402.1:c.304G>C, NM_001242739.2:c.331G>A, NM_001242739.2:c.331G>C, NM_001242739.1:c.331G>A, NM_001242739.1:c.331G>C, XM_047421903.1:c.304G>A, XM_047421903.1:c.304G>C, XM_047421910.1:c.304G>A, XM_047421910.1:c.304G>C, XM_047421899.1:c.331G>A, XM_047421899.1:c.331G>C, XP_006710734.1:p.Asp107Asn, XP_006710734.1:p.Asp107His, NP_056995.1:p.Asp80Asn, NP_056995.1:p.Asp80His, XP_016856891.1:p.Asp102Asn, XP_016856891.1:p.Asp102His, NP_001229668.1:p.Asp111Asn, NP_001229668.1:p.Asp111His, XP_047277859.1:p.Asp102Asn, XP_047277859.1:p.Asp102His, XP_047277866.1:p.Asp102Asn, XP_047277866.1:p.Asp102His, XP_047277855.1:p.Asp111Asn, XP_047277855.1:p.Asp111His

Select item 145744443811.

rs1457444438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:42851295 (GRCh38)
1:43316966 (GRCh37)
Canonical SPDI:: NC_000001.11:42851294:A:C,NC_000001.11:42851294:A:G
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.42851295A>C, NC_000001.11:g.42851295A>G, NC_000001.10:g.43316966A>C, NC_000001.10:g.43316966A>G, XM_006710671.5:c.418A>C, XM_006710671.5:c.418A>G, XM_006710671.4:c.418A>C, XM_006710671.4:c.418A>G, XM_006710671.3:c.418A>C, XM_006710671.3:c.418A>G, XM_006710671.2:c.418A>C, XM_006710671.2:c.418A>G, XM_006710671.1:c.418A>C, XM_006710671.1:c.418A>G, NM_015911.4:c.337A>C, NM_015911.4:c.337A>G, NM_015911.3:c.337A>C, NM_015911.3:c.337A>G, XM_017001402.3:c.403A>C, XM_017001402.3:c.403A>G, XM_017001402.2:c.403A>C, XM_017001402.2:c.403A>G, XM_017001402.1:c.403A>C, XM_017001402.1:c.403A>G, NM_001242739.2:c.430A>C, NM_001242739.2:c.430A>G, NM_001242739.1:c.430A>C, NM_001242739.1:c.430A>G, XM_047421903.1:c.403A>C, XM_047421903.1:c.403A>G, XM_047421910.1:c.403A>C, XM_047421910.1:c.403A>G, XM_047421899.1:c.430A>C, XM_047421899.1:c.430A>G, XP_006710734.1:p.Lys140Gln, XP_006710734.1:p.Lys140Glu, NP_056995.1:p.Lys113Gln, NP_056995.1:p.Lys113Glu, XP_016856891.1:p.Lys135Gln, XP_016856891.1:p.Lys135Glu, NP_001229668.1:p.Lys144Gln, NP_001229668.1:p.Lys144Glu, XP_047277859.1:p.Lys135Gln, XP_047277859.1:p.Lys135Glu, XP_047277866.1:p.Lys135Gln, XP_047277866.1:p.Lys135Glu, XP_047277855.1:p.Lys144Gln, XP_047277855.1:p.Lys144Glu

Select item 145143696812.

rs1451436968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:42851462 (GRCh38)
1:43317133 (GRCh37)
Canonical SPDI:: NC_000001.11:42851461:C:A,NC_000001.11:42851461:C:T
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851462C>A, NC_000001.11:g.42851462C>T, NC_000001.10:g.43317133C>A, NC_000001.10:g.43317133C>T, XM_006710671.5:c.585C>A, XM_006710671.5:c.585C>T, XM_006710671.4:c.585C>A, XM_006710671.4:c.585C>T, XM_006710671.3:c.585C>A, XM_006710671.3:c.585C>T, XM_006710671.2:c.585C>A, XM_006710671.2:c.585C>T, XM_006710671.1:c.585C>A, XM_006710671.1:c.585C>T, NM_015911.4:c.504C>A, NM_015911.4:c.504C>T, NM_015911.3:c.504C>A, NM_015911.3:c.504C>T, XM_017001402.3:c.570C>A, XM_017001402.3:c.570C>T, XM_017001402.2:c.570C>A, XM_017001402.2:c.570C>T, XM_017001402.1:c.570C>A, XM_017001402.1:c.570C>T, NM_001242739.2:c.597C>A, NM_001242739.2:c.597C>T, NM_001242739.1:c.597C>A, NM_001242739.1:c.597C>T, XM_047421903.1:c.570C>A, XM_047421903.1:c.570C>T, XM_047421910.1:c.570C>A, XM_047421910.1:c.570C>T, XM_047421899.1:c.597C>A, XM_047421899.1:c.597C>T, XP_006710734.1:p.Tyr195Ter, NP_056995.1:p.Tyr168Ter, XP_016856891.1:p.Tyr190Ter, NP_001229668.1:p.Tyr199Ter, XP_047277859.1:p.Tyr190Ter, XP_047277866.1:p.Tyr190Ter, XP_047277855.1:p.Tyr199Ter

Select item 144943935713.

rs1449439357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:42851042 (GRCh38)
1:43316713 (GRCh37)
Canonical SPDI:: NC_000001.11:42851041:A:G,NC_000001.11:42851041:A:T
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.42851042A>G, NC_000001.11:g.42851042A>T, NC_000001.10:g.43316713A>G, NC_000001.10:g.43316713A>T, XM_006710671.5:c.165A>G, XM_006710671.5:c.165A>T, XM_006710671.4:c.165A>G, XM_006710671.4:c.165A>T, XM_006710671.3:c.165A>G, XM_006710671.3:c.165A>T, XM_006710671.2:c.165A>G, XM_006710671.2:c.165A>T, XM_006710671.1:c.165A>G, XM_006710671.1:c.165A>T, NM_015911.4:c.84A>G, NM_015911.4:c.84A>T, NM_015911.3:c.84A>G, NM_015911.3:c.84A>T, XM_017001402.3:c.150A>G, XM_017001402.3:c.150A>T, XM_017001402.2:c.150A>G, XM_017001402.2:c.150A>T, XM_017001402.1:c.150A>G, XM_017001402.1:c.150A>T, NM_001242739.2:c.177A>G, NM_001242739.2:c.177A>T, NM_001242739.1:c.177A>G, NM_001242739.1:c.177A>T, XM_047421903.1:c.150A>G, XM_047421903.1:c.150A>T, XM_047421910.1:c.150A>G, XM_047421910.1:c.150A>T, XM_047421899.1:c.177A>G, XM_047421899.1:c.177A>T

Select item 144730790114.

rs1447307901 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 1:42851749 (GRCh38)
1:43317421 (GRCh37)
Canonical SPDI:: NC_000001.11:42851749:CTC:CTCTC
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851751_42851752dup, NC_000001.10:g.43317422_43317423dup, XM_006710671.5:c.874_875dup, XM_006710671.4:c.874_875dup, XM_006710671.3:c.874_875dup, XM_006710671.2:c.874_875dup, XM_006710671.1:c.874_875dup, NM_015911.4:c.793_794dup, NM_015911.3:c.793_794dup, XM_017001402.3:c.859_860dup, XM_017001402.2:c.859_860dup, XM_017001402.1:c.859_860dup, NM_001242739.2:c.886_887dup, NM_001242739.1:c.886_887dup, XM_047421903.1:c.859_860dup, XM_047421910.1:c.859_860dup, XM_047421899.1:c.886_887dup, XP_006710734.1:p.Asn293fs, NP_056995.1:p.Asn266fs, XP_016856891.1:p.Asn288fs, NP_001229668.1:p.Asn297fs, XP_047277859.1:p.Asn288fs, XP_047277866.1:p.Asn288fs, XP_047277855.1:p.Asn297fs

Select item 144237650815.

rs1442376508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42851563 (GRCh38)
1:43317234 (GRCh37)
Canonical SPDI:: NC_000001.11:42851562:G:A
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851563G>A, NC_000001.10:g.43317234G>A, XM_006710671.5:c.686G>A, XM_006710671.4:c.686G>A, XM_006710671.3:c.686G>A, XM_006710671.2:c.686G>A, XM_006710671.1:c.686G>A, NM_015911.4:c.605G>A, NM_015911.3:c.605G>A, XM_017001402.3:c.671G>A, XM_017001402.2:c.671G>A, XM_017001402.1:c.671G>A, NM_001242739.2:c.698G>A, NM_001242739.1:c.698G>A, XM_047421903.1:c.671G>A, XM_047421910.1:c.671G>A, XM_047421899.1:c.698G>A, XP_006710734.1:p.Gly229Glu, NP_056995.1:p.Gly202Glu, XP_016856891.1:p.Gly224Glu, NP_001229668.1:p.Gly233Glu, XP_047277859.1:p.Gly224Glu, XP_047277866.1:p.Gly224Glu, XP_047277855.1:p.Gly233Glu

Select item 144033452916.

rs1440334529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42851515 (GRCh38)
1:43317186 (GRCh37)
Canonical SPDI:: NC_000001.11:42851514:A:G
Gene:: ZNF691 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851515A>G, NC_000001.10:g.43317186A>G, XM_006710671.5:c.638A>G, XM_006710671.4:c.638A>G, XM_006710671.3:c.638A>G, XM_006710671.2:c.638A>G, XM_006710671.1:c.638A>G, NM_015911.4:c.557A>G, NM_015911.3:c.557A>G, XM_017001402.3:c.623A>G, XM_017001402.2:c.623A>G, XM_017001402.1:c.623A>G, NM_001242739.2:c.650A>G, NM_001242739.1:c.650A>G, XM_047421903.1:c.623A>G, XM_047421910.1:c.623A>G, XM_047421899.1:c.650A>G, XP_006710734.1:p.His213Arg, NP_056995.1:p.His186Arg, XP_016856891.1:p.His208Arg, NP_001229668.1:p.His217Arg, XP_047277859.1:p.His208Arg, XP_047277866.1:p.His208Arg, XP_047277855.1:p.His217Arg

Select item 143399414417.

rs1433994144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:42851583 (GRCh38)
1:43317254 (GRCh37)
Canonical SPDI:: NC_000001.11:42851582:T:A,NC_000001.11:42851582:T:G
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.42851583T>A, NC_000001.11:g.42851583T>G, NC_000001.10:g.43317254T>A, NC_000001.10:g.43317254T>G, XM_006710671.5:c.706T>A, XM_006710671.5:c.706T>G, XM_006710671.4:c.706T>A, XM_006710671.4:c.706T>G, XM_006710671.3:c.706T>A, XM_006710671.3:c.706T>G, XM_006710671.2:c.706T>A, XM_006710671.2:c.706T>G, XM_006710671.1:c.706T>A, XM_006710671.1:c.706T>G, NM_015911.4:c.625T>A, NM_015911.4:c.625T>G, NM_015911.3:c.625T>A, NM_015911.3:c.625T>G, XM_017001402.3:c.691T>A, XM_017001402.3:c.691T>G, XM_017001402.2:c.691T>A, XM_017001402.2:c.691T>G, XM_017001402.1:c.691T>A, XM_017001402.1:c.691T>G, NM_001242739.2:c.718T>A, NM_001242739.2:c.718T>G, NM_001242739.1:c.718T>A, NM_001242739.1:c.718T>G, XM_047421903.1:c.691T>A, XM_047421903.1:c.691T>G, XM_047421910.1:c.691T>A, XM_047421910.1:c.691T>G, XM_047421899.1:c.718T>A, XM_047421899.1:c.718T>G, XP_006710734.1:p.Ser236Thr, XP_006710734.1:p.Ser236Ala, NP_056995.1:p.Ser209Thr, NP_056995.1:p.Ser209Ala, XP_016856891.1:p.Ser231Thr, XP_016856891.1:p.Ser231Ala, NP_001229668.1:p.Ser240Thr, NP_001229668.1:p.Ser240Ala, XP_047277859.1:p.Ser231Thr, XP_047277859.1:p.Ser231Ala, XP_047277866.1:p.Ser231Thr, XP_047277866.1:p.Ser231Ala, XP_047277855.1:p.Ser240Thr, XP_047277855.1:p.Ser240Ala

Select item 143176410018.

rs1431764100 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:42851542 (GRCh38)
1:43317213 (GRCh37)
Canonical SPDI:: NC_000001.11:42851540:CCC:C
Gene:: ZNF691 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42851542_42851543del, NC_000001.10:g.43317213_43317214del, XM_006710671.5:c.665_666del, XM_006710671.4:c.665_666del, XM_006710671.3:c.665_666del, XM_006710671.2:c.665_666del, XM_006710671.1:c.665_666del, NM_015911.4:c.584_585del, NM_015911.3:c.584_585del, XM_017001402.3:c.650_651del, XM_017001402.2:c.650_651del, XM_017001402.1:c.650_651del, NM_001242739.2:c.677_678del, NM_001242739.1:c.677_678del, XM_047421903.1:c.650_651del, XM_047421910.1:c.650_651del, XM_047421899.1:c.677_678del, XP_006710734.1:p.Pro222fs, NP_056995.1:p.Pro195fs, XP_016856891.1:p.Pro217fs, NP_001229668.1:p.Pro226fs, XP_047277859.1:p.Pro217fs, XP_047277866.1:p.Pro217fs, XP_047277855.1:p.Pro226fs

Select item 143064691719.

rs1430646917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42851724 (GRCh38)
1:43317395 (GRCh37)
Canonical SPDI:: NC_000001.11:42851723:G:A
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851724G>A, NC_000001.10:g.43317395G>A, XM_006710671.5:c.847G>A, XM_006710671.4:c.847G>A, XM_006710671.3:c.847G>A, XM_006710671.2:c.847G>A, XM_006710671.1:c.847G>A, NM_015911.4:c.766G>A, NM_015911.3:c.766G>A, XM_017001402.3:c.832G>A, XM_017001402.2:c.832G>A, XM_017001402.1:c.832G>A, NM_001242739.2:c.859G>A, NM_001242739.1:c.859G>A, XM_047421903.1:c.832G>A, XM_047421910.1:c.832G>A, XM_047421899.1:c.859G>A, XP_006710734.1:p.Val283Met, NP_056995.1:p.Val256Met, XP_016856891.1:p.Val278Met, NP_001229668.1:p.Val287Met, XP_047277859.1:p.Val278Met, XP_047277866.1:p.Val278Met, XP_047277855.1:p.Val287Met

Select item 142764927320.

rs1427649273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:42851302 (GRCh38)
1:43316973 (GRCh37)
Canonical SPDI:: NC_000001.11:42851301:C:G,NC_000001.11:42851301:C:T
Gene:: ZNF691 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42851302C>G, NC_000001.11:g.42851302C>T, NC_000001.10:g.43316973C>G, NC_000001.10:g.43316973C>T, XM_006710671.5:c.425C>G, XM_006710671.5:c.425C>T, XM_006710671.4:c.425C>G, XM_006710671.4:c.425C>T, XM_006710671.3:c.425C>G, XM_006710671.3:c.425C>T, XM_006710671.2:c.425C>G, XM_006710671.2:c.425C>T, XM_006710671.1:c.425C>G, XM_006710671.1:c.425C>T, NM_015911.4:c.344C>G, NM_015911.4:c.344C>T, NM_015911.3:c.344C>G, NM_015911.3:c.344C>T, XM_017001402.3:c.410C>G, XM_017001402.3:c.410C>T, XM_017001402.2:c.410C>G, XM_017001402.2:c.410C>T, XM_017001402.1:c.410C>G, XM_017001402.1:c.410C>T, NM_001242739.2:c.437C>G, NM_001242739.2:c.437C>T, NM_001242739.1:c.437C>G, NM_001242739.1:c.437C>T, XM_047421903.1:c.410C>G, XM_047421903.1:c.410C>T, XM_047421910.1:c.410C>G, XM_047421910.1:c.410C>T, XM_047421899.1:c.437C>G, XM_047421899.1:c.437C>T, XP_006710734.1:p.Ser142Cys, XP_006710734.1:p.Ser142Phe, NP_056995.1:p.Ser115Cys, NP_056995.1:p.Ser115Phe, XP_016856891.1:p.Ser137Cys, XP_016856891.1:p.Ser137Phe, NP_001229668.1:p.Ser146Cys, NP_001229668.1:p.Ser146Phe, XP_047277859.1:p.Ser137Cys, XP_047277859.1:p.Ser137Phe, XP_047277866.1:p.Ser137Cys, XP_047277866.1:p.Ser137Phe, XP_047277855.1:p.Ser146Cys, XP_047277855.1:p.Ser146Phe

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 306

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