SNP Links for Protein (Select 767951780) - SNP

Links from Protein

Items: 1 to 20 of 191

<< First< Prev

Page of 10

Next >Last >>

Select item 14771635841.

rs1477163584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70681320 (GRCh38)
8:71593555 (GRCh37)
Canonical SPDI:: NC_000008.11:70681319:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000063/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.70681320G>A, NC_000008.10:g.71593555G>A, XM_011517524.4:c.262G>A, XM_011517524.3:c.262G>A, XM_011517524.2:c.262G>A, XM_011517524.1:c.262G>A, XM_011517527.4:c.262G>A, XM_011517527.3:c.262G>A, XM_011517527.2:c.262G>A, XM_011517527.1:c.262G>A, XM_011517526.4:c.262G>A, XM_011517526.3:c.262G>A, XM_011517526.2:c.262G>A, XM_011517526.1:c.262G>A, XM_011517525.3:c.262G>A, XM_011517525.2:c.262G>A, XM_011517525.1:c.262G>A, XM_017013404.3:c.262G>A, XM_017013404.2:c.262G>A, XM_017013404.1:c.262G>A, XM_017013405.3:c.262G>A, XM_017013405.2:c.262G>A, XM_017013405.1:c.262G>A, NM_001287258.2:c.-253G>A, NM_001287258.1:c.-253G>A, NM_001287259.2:c.262G>A, NM_001287259.1:c.262G>A, NM_001011720.2:c.262G>A, NM_001011720.1:c.262G>A, NM_001287260.2:c.262G>A, NM_001287260.1:c.262G>A, XP_011515826.1:p.Val88Ile, XP_011515829.1:p.Val88Ile, XP_011515828.1:p.Val88Ile, XP_011515827.1:p.Val88Ile, XP_016868893.1:p.Val88Ile, XP_016868894.1:p.Val88Ile, NP_001274188.1:p.Val88Ile, NP_001011720.1:p.Val88Ile, NP_001274189.1:p.Val88Ile

Select item 14755290112.

rs1475529011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:70706989 (GRCh38)
8:71619224 (GRCh37)
Canonical SPDI:: NC_000008.11:70706988:C:G
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70706989C>G, NC_000008.10:g.71619224C>G, XM_011517524.4:c.329C>G, XM_011517524.3:c.329C>G, XM_011517524.2:c.329C>G, XM_011517524.1:c.329C>G, XM_011517527.4:c.329C>G, XM_011517527.3:c.329C>G, XM_011517527.2:c.329C>G, XM_011517527.1:c.329C>G, XM_011517526.4:c.329C>G, XM_011517526.3:c.329C>G, XM_011517526.2:c.329C>G, XM_011517526.1:c.329C>G, XM_011517525.3:c.329C>G, XM_011517525.2:c.329C>G, XM_011517525.1:c.329C>G, XM_017013404.3:c.329C>G, XM_017013404.2:c.329C>G, XM_017013404.1:c.329C>G, XM_017013405.3:c.329C>G, XM_017013405.2:c.329C>G, XM_017013405.1:c.329C>G, NM_001287258.2:c.-68C>G, NM_001287258.1:c.-68C>G, NM_001287259.2:c.329C>G, NM_001287259.1:c.329C>G, NM_001011720.2:c.329C>G, NM_001011720.1:c.329C>G, NM_001287260.2:c.329C>G, NM_001287260.1:c.329C>G, XP_011515826.1:p.Thr110Ser, XP_011515829.1:p.Thr110Ser, XP_011515828.1:p.Thr110Ser, XP_011515827.1:p.Thr110Ser, XP_016868893.1:p.Thr110Ser, XP_016868894.1:p.Thr110Ser, NP_001274188.1:p.Thr110Ser, NP_001011720.1:p.Thr110Ser, NP_001274189.1:p.Thr110Ser

Select item 14736265763.

rs1473626576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:71065395 (GRCh38)
8:71977630 (GRCh37)
Canonical SPDI:: NC_000008.11:71065394:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.71065395C>T, NC_000008.10:g.71977630C>T, XM_011517527.4:c.532C>T, XM_011517527.3:c.532C>T, XM_011517527.2:c.532C>T, XM_011517527.1:c.532C>T, XP_011515829.1:p.Pro178Ser

Select item 14705607444.

rs1470560744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:70681156 (GRCh38)
8:71593391 (GRCh37)
Canonical SPDI:: NC_000008.11:70681155:T:A,NC_000008.11:70681155:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70681156T>A, NC_000008.11:g.70681156T>C, NC_000008.10:g.71593391T>A, NC_000008.10:g.71593391T>C, XM_011517524.4:c.98T>A, XM_011517524.4:c.98T>C, XM_011517524.3:c.98T>A, XM_011517524.3:c.98T>C, XM_011517524.2:c.98T>A, XM_011517524.2:c.98T>C, XM_011517524.1:c.98T>A, XM_011517524.1:c.98T>C, XM_011517527.4:c.98T>A, XM_011517527.4:c.98T>C, XM_011517527.3:c.98T>A, XM_011517527.3:c.98T>C, XM_011517527.2:c.98T>A, XM_011517527.2:c.98T>C, XM_011517527.1:c.98T>A, XM_011517527.1:c.98T>C, XM_011517526.4:c.98T>A, XM_011517526.4:c.98T>C, XM_011517526.3:c.98T>A, XM_011517526.3:c.98T>C, XM_011517526.2:c.98T>A, XM_011517526.2:c.98T>C, XM_011517526.1:c.98T>A, XM_011517526.1:c.98T>C, XM_011517525.3:c.98T>A, XM_011517525.3:c.98T>C, XM_011517525.2:c.98T>A, XM_011517525.2:c.98T>C, XM_011517525.1:c.98T>A, XM_011517525.1:c.98T>C, XM_017013404.3:c.98T>A, XM_017013404.3:c.98T>C, XM_017013404.2:c.98T>A, XM_017013404.2:c.98T>C, XM_017013404.1:c.98T>A, XM_017013404.1:c.98T>C, XM_017013405.3:c.98T>A, XM_017013405.3:c.98T>C, XM_017013405.2:c.98T>A, XM_017013405.2:c.98T>C, XM_017013405.1:c.98T>A, XM_017013405.1:c.98T>C, NM_001287258.2:c.-417T>A, NM_001287258.2:c.-417T>C, NM_001287258.1:c.-417T>A, NM_001287258.1:c.-417T>C, NM_001287259.2:c.98T>A, NM_001287259.2:c.98T>C, NM_001287259.1:c.98T>A, NM_001287259.1:c.98T>C, NM_001011720.2:c.98T>A, NM_001011720.2:c.98T>C, NM_001011720.1:c.98T>A, NM_001011720.1:c.98T>C, NM_001287260.2:c.98T>A, NM_001287260.2:c.98T>C, NM_001287260.1:c.98T>A, NM_001287260.1:c.98T>C, XP_011515826.1:p.Phe33Tyr, XP_011515826.1:p.Phe33Ser, XP_011515829.1:p.Phe33Tyr, XP_011515829.1:p.Phe33Ser, XP_011515828.1:p.Phe33Tyr, XP_011515828.1:p.Phe33Ser, XP_011515827.1:p.Phe33Tyr, XP_011515827.1:p.Phe33Ser, XP_016868893.1:p.Phe33Tyr, XP_016868893.1:p.Phe33Ser, XP_016868894.1:p.Phe33Tyr, XP_016868894.1:p.Phe33Ser, NP_001274188.1:p.Phe33Tyr, NP_001274188.1:p.Phe33Ser, NP_001011720.1:p.Phe33Tyr, NP_001011720.1:p.Phe33Ser, NP_001274189.1:p.Phe33Tyr, NP_001274189.1:p.Phe33Ser

Select item 14666100155.

rs1466610015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70706961 (GRCh38)
8:71619196 (GRCh37)
Canonical SPDI:: NC_000008.11:70706960:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.70706961C>T, NC_000008.10:g.71619196C>T, XM_011517524.4:c.301C>T, XM_011517524.3:c.301C>T, XM_011517524.2:c.301C>T, XM_011517524.1:c.301C>T, XM_011517527.4:c.301C>T, XM_011517527.3:c.301C>T, XM_011517527.2:c.301C>T, XM_011517527.1:c.301C>T, XM_011517526.4:c.301C>T, XM_011517526.3:c.301C>T, XM_011517526.2:c.301C>T, XM_011517526.1:c.301C>T, XM_011517525.3:c.301C>T, XM_011517525.2:c.301C>T, XM_011517525.1:c.301C>T, XM_017013404.3:c.301C>T, XM_017013404.2:c.301C>T, XM_017013404.1:c.301C>T, XM_017013405.3:c.301C>T, XM_017013405.2:c.301C>T, XM_017013405.1:c.301C>T, NM_001287258.2:c.-96C>T, NM_001287258.1:c.-96C>T, NM_001287259.2:c.301C>T, NM_001287259.1:c.301C>T, NM_001011720.2:c.301C>T, NM_001011720.1:c.301C>T, NM_001287260.2:c.301C>T, NM_001287260.1:c.301C>T, XP_011515826.1:p.His101Tyr, XP_011515829.1:p.His101Tyr, XP_011515828.1:p.His101Tyr, XP_011515827.1:p.His101Tyr, XP_016868893.1:p.His101Tyr, XP_016868894.1:p.His101Tyr, NP_001274188.1:p.His101Tyr, NP_001011720.1:p.His101Tyr, NP_001274189.1:p.His101Tyr

Select item 14617758496.

rs1461775849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70706938 (GRCh38)
8:71619173 (GRCh37)
Canonical SPDI:: NC_000008.11:70706937:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70706938G>A, NC_000008.10:g.71619173G>A, XM_011517524.4:c.278G>A, XM_011517524.3:c.278G>A, XM_011517524.2:c.278G>A, XM_011517524.1:c.278G>A, XM_011517527.4:c.278G>A, XM_011517527.3:c.278G>A, XM_011517527.2:c.278G>A, XM_011517527.1:c.278G>A, XM_011517526.4:c.278G>A, XM_011517526.3:c.278G>A, XM_011517526.2:c.278G>A, XM_011517526.1:c.278G>A, XM_011517525.3:c.278G>A, XM_011517525.2:c.278G>A, XM_011517525.1:c.278G>A, XM_017013404.3:c.278G>A, XM_017013404.2:c.278G>A, XM_017013404.1:c.278G>A, XM_017013405.3:c.278G>A, XM_017013405.2:c.278G>A, XM_017013405.1:c.278G>A, NM_001287258.2:c.-119G>A, NM_001287258.1:c.-119G>A, NM_001287259.2:c.278G>A, NM_001287259.1:c.278G>A, NM_001011720.2:c.278G>A, NM_001011720.1:c.278G>A, NM_001287260.2:c.278G>A, NM_001287260.1:c.278G>A, XP_011515826.1:p.Trp93Ter, XP_011515829.1:p.Trp93Ter, XP_011515828.1:p.Trp93Ter, XP_011515827.1:p.Trp93Ter, XP_016868893.1:p.Trp93Ter, XP_016868894.1:p.Trp93Ter, NP_001274188.1:p.Trp93Ter, NP_001011720.1:p.Trp93Ter, NP_001274189.1:p.Trp93Ter

Select item 14598441947.

rs1459844194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70707042 (GRCh38)
8:71619277 (GRCh37)
Canonical SPDI:: NC_000008.11:70707041:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.70707042G>A, NC_000008.10:g.71619277G>A, XM_011517524.4:c.382G>A, XM_011517524.3:c.382G>A, XM_011517524.2:c.382G>A, XM_011517524.1:c.382G>A, XM_011517527.4:c.382G>A, XM_011517527.3:c.382G>A, XM_011517527.2:c.382G>A, XM_011517527.1:c.382G>A, XM_011517526.4:c.382G>A, XM_011517526.3:c.382G>A, XM_011517526.2:c.382G>A, XM_011517526.1:c.382G>A, XM_011517525.3:c.382G>A, XM_011517525.2:c.382G>A, XM_011517525.1:c.382G>A, XM_017013404.3:c.382G>A, XM_017013404.2:c.382G>A, XM_017013404.1:c.382G>A, XM_017013405.3:c.382G>A, XM_017013405.2:c.382G>A, XM_017013405.1:c.382G>A, NM_001287258.2:c.-15G>A, NM_001287258.1:c.-15G>A, NM_001287259.2:c.382G>A, NM_001287259.1:c.382G>A, NM_001011720.2:c.382G>A, NM_001011720.1:c.382G>A, NM_001287260.2:c.382G>A, NM_001287260.1:c.382G>A, XP_011515826.1:p.Val128Met, XP_011515829.1:p.Val128Met, XP_011515828.1:p.Val128Met, XP_011515827.1:p.Val128Met, XP_016868893.1:p.Val128Met, XP_016868894.1:p.Val128Met, NP_001274188.1:p.Val128Met, NP_001011720.1:p.Val128Met, NP_001274189.1:p.Val128Met

Select item 14557890528.

rs1455789052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:70681075 (GRCh38)
8:71593310 (GRCh37)
Canonical SPDI:: NC_000008.11:70681074:A:C
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70681075A>C, NC_000008.10:g.71593310A>C, XM_011517524.4:c.17A>C, XM_011517524.3:c.17A>C, XM_011517524.2:c.17A>C, XM_011517524.1:c.17A>C, XM_011517527.4:c.17A>C, XM_011517527.3:c.17A>C, XM_011517527.2:c.17A>C, XM_011517527.1:c.17A>C, XM_011517526.4:c.17A>C, XM_011517526.3:c.17A>C, XM_011517526.2:c.17A>C, XM_011517526.1:c.17A>C, XM_011517525.3:c.17A>C, XM_011517525.2:c.17A>C, XM_011517525.1:c.17A>C, XM_017013404.3:c.17A>C, XM_017013404.2:c.17A>C, XM_017013404.1:c.17A>C, XM_017013405.3:c.17A>C, XM_017013405.2:c.17A>C, XM_017013405.1:c.17A>C, NM_001287258.2:c.-498A>C, NM_001287258.1:c.-498A>C, NM_001287259.2:c.17A>C, NM_001287259.1:c.17A>C, NM_001011720.2:c.17A>C, NM_001011720.1:c.17A>C, NM_001287260.2:c.17A>C, NM_001287260.1:c.17A>C, XP_011515826.1:p.Gln6Pro, XP_011515829.1:p.Gln6Pro, XP_011515828.1:p.Gln6Pro, XP_011515827.1:p.Gln6Pro, XP_016868893.1:p.Gln6Pro, XP_016868894.1:p.Gln6Pro, NP_001274188.1:p.Gln6Pro, NP_001011720.1:p.Gln6Pro, NP_001274189.1:p.Gln6Pro

Select item 14525488669.

rs1452548866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:70706980 (GRCh38)
8:71619215 (GRCh37)
Canonical SPDI:: NC_000008.11:70706979:A:G
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.70706980A>G, NC_000008.10:g.71619215A>G, XM_011517524.4:c.320A>G, XM_011517524.3:c.320A>G, XM_011517524.2:c.320A>G, XM_011517524.1:c.320A>G, XM_011517527.4:c.320A>G, XM_011517527.3:c.320A>G, XM_011517527.2:c.320A>G, XM_011517527.1:c.320A>G, XM_011517526.4:c.320A>G, XM_011517526.3:c.320A>G, XM_011517526.2:c.320A>G, XM_011517526.1:c.320A>G, XM_011517525.3:c.320A>G, XM_011517525.2:c.320A>G, XM_011517525.1:c.320A>G, XM_017013404.3:c.320A>G, XM_017013404.2:c.320A>G, XM_017013404.1:c.320A>G, XM_017013405.3:c.320A>G, XM_017013405.2:c.320A>G, XM_017013405.1:c.320A>G, NM_001287258.2:c.-77A>G, NM_001287258.1:c.-77A>G, NM_001287259.2:c.320A>G, NM_001287259.1:c.320A>G, NM_001011720.2:c.320A>G, NM_001011720.1:c.320A>G, NM_001287260.2:c.320A>G, NM_001287260.1:c.320A>G, XP_011515826.1:p.Asp107Gly, XP_011515829.1:p.Asp107Gly, XP_011515828.1:p.Asp107Gly, XP_011515827.1:p.Asp107Gly, XP_016868893.1:p.Asp107Gly, XP_016868894.1:p.Asp107Gly, NP_001274188.1:p.Asp107Gly, NP_001011720.1:p.Asp107Gly, NP_001274189.1:p.Asp107Gly

Select item 145127301710.

rs1451273017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70681266 (GRCh38)
8:71593501 (GRCh37)
Canonical SPDI:: NC_000008.11:70681265:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.70681266G>A, NC_000008.10:g.71593501G>A, XM_011517524.4:c.208G>A, XM_011517524.3:c.208G>A, XM_011517524.2:c.208G>A, XM_011517524.1:c.208G>A, XM_011517527.4:c.208G>A, XM_011517527.3:c.208G>A, XM_011517527.2:c.208G>A, XM_011517527.1:c.208G>A, XM_011517526.4:c.208G>A, XM_011517526.3:c.208G>A, XM_011517526.2:c.208G>A, XM_011517526.1:c.208G>A, XM_011517525.3:c.208G>A, XM_011517525.2:c.208G>A, XM_011517525.1:c.208G>A, XM_017013404.3:c.208G>A, XM_017013404.2:c.208G>A, XM_017013404.1:c.208G>A, XM_017013405.3:c.208G>A, XM_017013405.2:c.208G>A, XM_017013405.1:c.208G>A, NM_001287258.2:c.-307G>A, NM_001287258.1:c.-307G>A, NM_001287259.2:c.208G>A, NM_001287259.1:c.208G>A, NM_001011720.2:c.208G>A, NM_001011720.1:c.208G>A, NM_001287260.2:c.208G>A, NM_001287260.1:c.208G>A, XP_011515826.1:p.Ala70Thr, XP_011515829.1:p.Ala70Thr, XP_011515828.1:p.Ala70Thr, XP_011515827.1:p.Ala70Thr, XP_016868893.1:p.Ala70Thr, XP_016868894.1:p.Ala70Thr, NP_001274188.1:p.Ala70Thr, NP_001011720.1:p.Ala70Thr, NP_001274189.1:p.Ala70Thr

Select item 144259005211.

rs1442590052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70681183 (GRCh38)
8:71593418 (GRCh37)
Canonical SPDI:: NC_000008.11:70681182:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70681183C>T, NC_000008.10:g.71593418C>T, XM_011517524.4:c.125C>T, XM_011517524.3:c.125C>T, XM_011517524.2:c.125C>T, XM_011517524.1:c.125C>T, XM_011517527.4:c.125C>T, XM_011517527.3:c.125C>T, XM_011517527.2:c.125C>T, XM_011517527.1:c.125C>T, XM_011517526.4:c.125C>T, XM_011517526.3:c.125C>T, XM_011517526.2:c.125C>T, XM_011517526.1:c.125C>T, XM_011517525.3:c.125C>T, XM_011517525.2:c.125C>T, XM_011517525.1:c.125C>T, XM_017013404.3:c.125C>T, XM_017013404.2:c.125C>T, XM_017013404.1:c.125C>T, XM_017013405.3:c.125C>T, XM_017013405.2:c.125C>T, XM_017013405.1:c.125C>T, NM_001287258.2:c.-390C>T, NM_001287258.1:c.-390C>T, NM_001287259.2:c.125C>T, NM_001287259.1:c.125C>T, NM_001011720.2:c.125C>T, NM_001011720.1:c.125C>T, NM_001287260.2:c.125C>T, NM_001287260.1:c.125C>T, XP_011515826.1:p.Ala42Val, XP_011515829.1:p.Ala42Val, XP_011515828.1:p.Ala42Val, XP_011515827.1:p.Ala42Val, XP_016868893.1:p.Ala42Val, XP_016868894.1:p.Ala42Val, NP_001274188.1:p.Ala42Val, NP_001011720.1:p.Ala42Val, NP_001274189.1:p.Ala42Val

Select item 143193209812.

rs1431932098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70707083 (GRCh38)
8:71619318 (GRCh37)
Canonical SPDI:: NC_000008.11:70707082:G:A
Gene:: XKR9 (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=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70707083G>A, NC_000008.10:g.71619318G>A, XM_011517524.4:c.423G>A, XM_011517524.3:c.423G>A, XM_011517524.2:c.423G>A, XM_011517524.1:c.423G>A, XM_011517527.4:c.423G>A, XM_011517527.3:c.423G>A, XM_011517527.2:c.423G>A, XM_011517527.1:c.423G>A, XM_011517526.4:c.423G>A, XM_011517526.3:c.423G>A, XM_011517526.2:c.423G>A, XM_011517526.1:c.423G>A, XM_011517525.3:c.423G>A, XM_011517525.2:c.423G>A, XM_011517525.1:c.423G>A, XM_017013404.3:c.423G>A, XM_017013404.2:c.423G>A, XM_017013404.1:c.423G>A, XM_017013405.3:c.423G>A, XM_017013405.2:c.423G>A, XM_017013405.1:c.423G>A, NM_001287258.2:c.27G>A, NM_001287258.1:c.27G>A, NM_001287259.2:c.423G>A, NM_001287259.1:c.423G>A, NM_001011720.2:c.423G>A, NM_001011720.1:c.423G>A, NM_001287260.2:c.423G>A, NM_001287260.1:c.423G>A

Select item 142493210713.

rs1424932107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70707108 (GRCh38)
8:71619343 (GRCh37)
Canonical SPDI:: NC_000008.11:70707107:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.70707108C>T, NC_000008.10:g.71619343C>T, XM_011517524.4:c.448C>T, XM_011517524.3:c.448C>T, XM_011517524.2:c.448C>T, XM_011517524.1:c.448C>T, XM_011517527.4:c.448C>T, XM_011517527.3:c.448C>T, XM_011517527.2:c.448C>T, XM_011517527.1:c.448C>T, XM_011517526.4:c.448C>T, XM_011517526.3:c.448C>T, XM_011517526.2:c.448C>T, XM_011517526.1:c.448C>T, XM_011517525.3:c.448C>T, XM_011517525.2:c.448C>T, XM_011517525.1:c.448C>T, XM_017013404.3:c.448C>T, XM_017013404.2:c.448C>T, XM_017013404.1:c.448C>T, XM_017013405.3:c.448C>T, XM_017013405.2:c.448C>T, XM_017013405.1:c.448C>T, NM_001287258.2:c.52C>T, NM_001287258.1:c.52C>T, NM_001287259.2:c.448C>T, NM_001287259.1:c.448C>T, NM_001011720.2:c.448C>T, NM_001011720.1:c.448C>T, NM_001287260.2:c.448C>T, NM_001287260.1:c.448C>T, XP_011515826.1:p.Gln150Ter, XP_011515829.1:p.Gln150Ter, XP_011515828.1:p.Gln150Ter, XP_011515827.1:p.Gln150Ter, XP_016868893.1:p.Gln150Ter, XP_016868894.1:p.Gln150Ter, NP_001274187.1:p.Gln18Ter, NP_001274188.1:p.Gln150Ter, NP_001011720.1:p.Gln150Ter, NP_001274189.1:p.Gln150Ter

Select item 142116241214.

rs1421162412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:71065376 (GRCh38)
8:71977611 (GRCh37)
Canonical SPDI:: NC_000008.11:71065375:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000008.11:g.71065376C>T, NC_000008.10:g.71977611C>T, XM_011517527.4:c.513C>T, XM_011517527.3:c.513C>T, XM_011517527.2:c.513C>T, XM_011517527.1:c.513C>T

Select item 142091358915.

rs1420913589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:70707054 (GRCh38)
8:71619289 (GRCh37)
Canonical SPDI:: NC_000008.11:70707053:A:T
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_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_000008.11:g.70707054A>T, NC_000008.10:g.71619289A>T, XM_011517524.4:c.394A>T, XM_011517524.3:c.394A>T, XM_011517524.2:c.394A>T, XM_011517524.1:c.394A>T, XM_011517527.4:c.394A>T, XM_011517527.3:c.394A>T, XM_011517527.2:c.394A>T, XM_011517527.1:c.394A>T, XM_011517526.4:c.394A>T, XM_011517526.3:c.394A>T, XM_011517526.2:c.394A>T, XM_011517526.1:c.394A>T, XM_011517525.3:c.394A>T, XM_011517525.2:c.394A>T, XM_011517525.1:c.394A>T, XM_017013404.3:c.394A>T, XM_017013404.2:c.394A>T, XM_017013404.1:c.394A>T, XM_017013405.3:c.394A>T, XM_017013405.2:c.394A>T, XM_017013405.1:c.394A>T, NM_001287258.2:c.-3A>T, NM_001287258.1:c.-3A>T, NM_001287259.2:c.394A>T, NM_001287259.1:c.394A>T, NM_001011720.2:c.394A>T, NM_001011720.1:c.394A>T, NM_001287260.2:c.394A>T, NM_001287260.1:c.394A>T, XP_011515826.1:p.Ser132Cys, XP_011515829.1:p.Ser132Cys, XP_011515828.1:p.Ser132Cys, XP_011515827.1:p.Ser132Cys, XP_016868893.1:p.Ser132Cys, XP_016868894.1:p.Ser132Cys, NP_001274188.1:p.Ser132Cys, NP_001011720.1:p.Ser132Cys, NP_001274189.1:p.Ser132Cys

Select item 141859914116.

rs1418599141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:71065361 (GRCh38)
8:71977596 (GRCh37)
Canonical SPDI:: NC_000008.11:71065360:A:G
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.71065361A>G, NC_000008.10:g.71977596A>G, XM_011517527.4:c.498A>G, XM_011517527.3:c.498A>G, XM_011517527.2:c.498A>G, XM_011517527.1:c.498A>G

Select item 141682931617.

rs1416829316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:70706934 (GRCh38)
8:71619169 (GRCh37)
Canonical SPDI:: NC_000008.11:70706933:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70706934T>C, NC_000008.10:g.71619169T>C, XM_011517524.4:c.274T>C, XM_011517524.3:c.274T>C, XM_011517524.2:c.274T>C, XM_011517524.1:c.274T>C, XM_011517527.4:c.274T>C, XM_011517527.3:c.274T>C, XM_011517527.2:c.274T>C, XM_011517527.1:c.274T>C, XM_011517526.4:c.274T>C, XM_011517526.3:c.274T>C, XM_011517526.2:c.274T>C, XM_011517526.1:c.274T>C, XM_011517525.3:c.274T>C, XM_011517525.2:c.274T>C, XM_011517525.1:c.274T>C, XM_017013404.3:c.274T>C, XM_017013404.2:c.274T>C, XM_017013404.1:c.274T>C, XM_017013405.3:c.274T>C, XM_017013405.2:c.274T>C, XM_017013405.1:c.274T>C, NM_001287258.2:c.-123T>C, NM_001287258.1:c.-123T>C, NM_001287259.2:c.274T>C, NM_001287259.1:c.274T>C, NM_001011720.2:c.274T>C, NM_001011720.1:c.274T>C, NM_001287260.2:c.274T>C, NM_001287260.1:c.274T>C, XP_011515826.1:p.Tyr92His, XP_011515829.1:p.Tyr92His, XP_011515828.1:p.Tyr92His, XP_011515827.1:p.Tyr92His, XP_016868893.1:p.Tyr92His, XP_016868894.1:p.Tyr92His, NP_001274188.1:p.Tyr92His, NP_001011720.1:p.Tyr92His, NP_001274189.1:p.Tyr92His

Select item 141341222518.

rs1413412225 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:70706958 (GRCh38)
8:71619193 (GRCh37)
Canonical SPDI:: NC_000008.11:70706957:TA:
Gene:: XKR9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70706958_70706959del, NC_000008.10:g.71619193_71619194del, XM_011517524.4:c.298_299del, XM_011517524.3:c.298_299del, XM_011517524.2:c.298_299del, XM_011517524.1:c.298_299del, XM_011517527.4:c.298_299del, XM_011517527.3:c.298_299del, XM_011517527.2:c.298_299del, XM_011517527.1:c.298_299del, XM_011517526.4:c.298_299del, XM_011517526.3:c.298_299del, XM_011517526.2:c.298_299del, XM_011517526.1:c.298_299del, XM_011517525.3:c.298_299del, XM_011517525.2:c.298_299del, XM_011517525.1:c.298_299del, XM_017013404.3:c.298_299del, XM_017013404.2:c.298_299del, XM_017013404.1:c.298_299del, XM_017013405.3:c.298_299del, XM_017013405.2:c.298_299del, XM_017013405.1:c.298_299del, NM_001287258.2:c.-99_-98del, NM_001287258.1:c.-99_-98del, NM_001287259.2:c.298_299del, NM_001287259.1:c.298_299del, NM_001011720.2:c.298_299del, NM_001011720.1:c.298_299del, NM_001287260.2:c.298_299del, NM_001287260.1:c.298_299del, XP_011515826.1:p.Tyr100fs, XP_011515829.1:p.Tyr100fs, XP_011515828.1:p.Tyr100fs, XP_011515827.1:p.Tyr100fs, XP_016868893.1:p.Tyr100fs, XP_016868894.1:p.Tyr100fs, NP_001274188.1:p.Tyr100fs, NP_001011720.1:p.Tyr100fs, NP_001274189.1:p.Tyr100fs

Select item 139718512219.

rs1397185122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:70681181 (GRCh38)
8:71593416 (GRCh37)
Canonical SPDI:: NC_000008.11:70681180:T:G
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.70681181T>G, NC_000008.10:g.71593416T>G, XM_011517524.4:c.123T>G, XM_011517524.3:c.123T>G, XM_011517524.2:c.123T>G, XM_011517524.1:c.123T>G, XM_011517527.4:c.123T>G, XM_011517527.3:c.123T>G, XM_011517527.2:c.123T>G, XM_011517527.1:c.123T>G, XM_011517526.4:c.123T>G, XM_011517526.3:c.123T>G, XM_011517526.2:c.123T>G, XM_011517526.1:c.123T>G, XM_011517525.3:c.123T>G, XM_011517525.2:c.123T>G, XM_011517525.1:c.123T>G, XM_017013404.3:c.123T>G, XM_017013404.2:c.123T>G, XM_017013404.1:c.123T>G, XM_017013405.3:c.123T>G, XM_017013405.2:c.123T>G, XM_017013405.1:c.123T>G, NM_001287258.2:c.-392T>G, NM_001287258.1:c.-392T>G, NM_001287259.2:c.123T>G, NM_001287259.1:c.123T>G, NM_001011720.2:c.123T>G, NM_001011720.1:c.123T>G, NM_001287260.2:c.123T>G, NM_001287260.1:c.123T>G, XP_011515826.1:p.Ser41Arg, XP_011515829.1:p.Ser41Arg, XP_011515828.1:p.Ser41Arg, XP_011515827.1:p.Ser41Arg, XP_016868893.1:p.Ser41Arg, XP_016868894.1:p.Ser41Arg, NP_001274188.1:p.Ser41Arg, NP_001011720.1:p.Ser41Arg, NP_001274189.1:p.Ser41Arg

Select item 139579918420.

rs1395799184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:70707061 (GRCh38)
8:71619296 (GRCh37)
Canonical SPDI:: NC_000008.11:70707060:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000008.11:g.70707061T>C, NC_000008.10:g.71619296T>C, XM_011517524.4:c.401T>C, XM_011517524.3:c.401T>C, XM_011517524.2:c.401T>C, XM_011517524.1:c.401T>C, XM_011517527.4:c.401T>C, XM_011517527.3:c.401T>C, XM_011517527.2:c.401T>C, XM_011517527.1:c.401T>C, XM_011517526.4:c.401T>C, XM_011517526.3:c.401T>C, XM_011517526.2:c.401T>C, XM_011517526.1:c.401T>C, XM_011517525.3:c.401T>C, XM_011517525.2:c.401T>C, XM_011517525.1:c.401T>C, XM_017013404.3:c.401T>C, XM_017013404.2:c.401T>C, XM_017013404.1:c.401T>C, XM_017013405.3:c.401T>C, XM_017013405.2:c.401T>C, XM_017013405.1:c.401T>C, NM_001287258.2:c.5T>C, NM_001287258.1:c.5T>C, NM_001287259.2:c.401T>C, NM_001287259.1:c.401T>C, NM_001011720.2:c.401T>C, NM_001011720.1:c.401T>C, NM_001287260.2:c.401T>C, NM_001287260.1:c.401T>C, XP_011515826.1:p.Leu134Pro, XP_011515829.1:p.Leu134Pro, XP_011515828.1:p.Leu134Pro, XP_011515827.1:p.Leu134Pro, XP_016868893.1:p.Leu134Pro, XP_016868894.1:p.Leu134Pro, NP_001274187.1:p.Leu2Pro, NP_001274188.1:p.Leu134Pro, NP_001011720.1:p.Leu134Pro, NP_001274189.1:p.Leu134Pro

<< First< Prev

Page of 10

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 191

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity