SNP Links for Protein (Select 4759182) - SNP

Links from Protein

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Select item 14902490131.

rs1490249013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:73709096 (GRCh38)
7:73123426 (GRCh37)
Canonical SPDI:: NC_000007.14:73709095:A:G
Gene:: STX1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
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_000007.14:g.73709096A>G, NC_000007.13:g.73123426A>G, NG_013360.1:g.15592T>C, NM_004603.4:c.57T>C, NM_004603.3:c.57T>C, NM_001165903.2:c.57T>C, NM_001165903.1:c.57T>C, NW_003871064.1:g.1238332A>G, XM_047420777.1:c.57T>C, XM_047420778.1:c.57T>C

Select item 14897242112.

rs1489724211 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:73708602 (GRCh38)
7:73122932 (GRCh37)
Canonical SPDI:: NC_000007.14:73708601:GGGGG:GGGG
Gene:: STX1A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73708606del, NC_000007.13:g.73122936del, NG_013360.1:g.16086del, NM_004603.4:c.195del, NM_004603.3:c.195del, NM_001165903.2:c.195del, NM_001165903.1:c.195del, NW_003871064.1:g.1237842del, XM_047420777.1:c.195del, XM_047420778.1:c.195del, NP_004594.1:p.Asn66fs, NP_001159375.1:p.Asn66fs, XP_047276733.1:p.Asn66fs, XP_047276734.1:p.Asn66fs

Select item 14772665193.

rs1477266519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73702944 (GRCh38)
7:73117274 (GRCh37)
Canonical SPDI:: NC_000007.14:73702943:G:A
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000091/3 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.73702944G>A, NC_000007.13:g.73117274G>A, NG_013360.1:g.21744C>T, NM_004603.4:c.579C>T, NM_004603.3:c.579C>T, NM_001165903.2:c.579C>T, NM_001165903.1:c.579C>T, NW_003871064.1:g.1232180G>A, XM_047420777.1:c.579C>T, XM_047420778.1:c.579C>T

Select item 14690082604.

rs1469008260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73705176 (GRCh38)
7:73119506 (GRCh37)
Canonical SPDI:: NC_000007.14:73705175:G:C
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.73705176G>C, NC_000007.13:g.73119506G>C, NG_013360.1:g.19512C>G, NM_004603.4:c.257C>G, NM_004603.3:c.257C>G, NM_001165903.2:c.257C>G, NM_001165903.1:c.257C>G, NW_003871064.1:g.1234412G>C, XR_927656.3:n.781G>C, XR_927656.2:n.865G>C, XM_047420777.1:c.257C>G, XM_047420778.1:c.257C>G, NP_004594.1:p.Ala86Gly, NP_001159375.1:p.Ala86Gly, XP_047276733.1:p.Ala86Gly, XP_047276734.1:p.Ala86Gly

Select item 14381316695.

rs1438131669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73704198 (GRCh38)
7:73118528 (GRCh37)
Canonical SPDI:: NC_000007.14:73704197:G:A
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.73704198G>A, NC_000007.13:g.73118528G>A, NG_013360.1:g.20490C>T, NM_004603.4:c.416C>T, NM_004603.3:c.416C>T, NM_001165903.2:c.416C>T, NM_001165903.1:c.416C>T, NW_003871064.1:g.1233434G>A, XM_047420777.1:c.416C>T, XM_047420778.1:c.416C>T, NP_004594.1:p.Ser139Phe, NP_001159375.1:p.Ser139Phe, XP_047276733.1:p.Ser139Phe, XP_047276734.1:p.Ser139Phe

Select item 14355230926.

rs1435523092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73702883 (GRCh38)
7:73117213 (GRCh37)
Canonical SPDI:: NC_000007.14:73702882:C:A,NC_000007.14:73702882:C:T
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73702883C>A, NC_000007.14:g.73702883C>T, NC_000007.13:g.73117213C>A, NC_000007.13:g.73117213C>T, NG_013360.1:g.21805G>T, NG_013360.1:g.21805G>A, NM_004603.4:c.640G>T, NM_004603.4:c.640G>A, NM_004603.3:c.640G>T, NM_004603.3:c.640G>A, NM_001165903.2:c.640G>T, NM_001165903.2:c.640G>A, NM_001165903.1:c.640G>T, NM_001165903.1:c.640G>A, NW_003871064.1:g.1232119C>A, NW_003871064.1:g.1232119C>T, XM_047420777.1:c.640G>T, XM_047420777.1:c.640G>A, XM_047420778.1:c.640G>T, XM_047420778.1:c.640G>A, NP_004594.1:p.Asp214Tyr, NP_004594.1:p.Asp214Asn, NP_001159375.1:p.Asp214Tyr, NP_001159375.1:p.Asp214Asn, XP_047276733.1:p.Asp214Tyr, XP_047276733.1:p.Asp214Asn, XP_047276734.1:p.Asp214Tyr, XP_047276734.1:p.Asp214Asn

Select item 14302728207.

rs1430272820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73702933 (GRCh38)
7:73117263 (GRCh37)
Canonical SPDI:: NC_000007.14:73702932:G:A
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.73702933G>A, NC_000007.13:g.73117263G>A, NG_013360.1:g.21755C>T, NM_004603.4:c.590C>T, NM_004603.3:c.590C>T, NM_001165903.2:c.590C>T, NM_001165903.1:c.590C>T, NW_003871064.1:g.1232169G>A, XM_047420777.1:c.590C>T, XM_047420778.1:c.590C>T, NP_004594.1:p.Thr197Met, NP_001159375.1:p.Thr197Met, XP_047276733.1:p.Thr197Met, XP_047276734.1:p.Thr197Met

Select item 14302394798.

rs1430239479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73708671 (GRCh38)
7:73123001 (GRCh37)
Canonical SPDI:: NC_000007.14:73708670:G:A
Gene:: STX1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.73708671G>A, NC_000007.13:g.73123001G>A, NG_013360.1:g.16017C>T, NM_004603.4:c.126C>T, NM_004603.3:c.126C>T, NM_001165903.2:c.126C>T, NM_001165903.1:c.126C>T, NW_003871064.1:g.1237907G>A, XM_047420777.1:c.126C>T, XM_047420778.1:c.126C>T

Select item 14013374219.

rs1401337421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73702894 (GRCh38)
7:73117224 (GRCh37)
Canonical SPDI:: NC_000007.14:73702893:C:T
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73702894C>T, NC_000007.13:g.73117224C>T, NG_013360.1:g.21794G>A, NM_004603.4:c.629G>A, NM_004603.3:c.629G>A, NM_001165903.2:c.629G>A, NM_001165903.1:c.629G>A, NW_003871064.1:g.1232130C>T, XM_047420777.1:c.629G>A, XM_047420778.1:c.629G>A, NP_004594.1:p.Arg210His, NP_001159375.1:p.Arg210His, XP_047276733.1:p.Arg210His, XP_047276734.1:p.Arg210His

Select item 139079246110.

rs1390792461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:73704412 (GRCh38)
7:73118742 (GRCh37)
Canonical SPDI:: NC_000007.14:73704411:A:C
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73704412A>C, NC_000007.13:g.73118742A>C, NG_013360.1:g.20276T>G, NM_004603.4:c.295T>G, NM_004603.3:c.295T>G, NM_001165903.2:c.295T>G, NM_001165903.1:c.295T>G, NW_003871064.1:g.1233648A>C, XM_047420777.1:c.295T>G, XM_047420778.1:c.295T>G, NP_004594.1:p.Ser99Ala, NP_001159375.1:p.Ser99Ala, XP_047276733.1:p.Ser99Ala, XP_047276734.1:p.Ser99Ala

Select item 138442275911.

rs1384422759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73702895 (GRCh38)
7:73117225 (GRCh37)
Canonical SPDI:: NC_000007.14:73702894:G:A
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73702895G>A, NC_000007.13:g.73117225G>A, NG_013360.1:g.21793C>T, NM_004603.4:c.628C>T, NM_004603.3:c.628C>T, NM_001165903.2:c.628C>T, NM_001165903.1:c.628C>T, NW_003871064.1:g.1232131G>A, XM_047420777.1:c.628C>T, XM_047420778.1:c.628C>T, NP_004594.1:p.Arg210Cys, NP_001159375.1:p.Arg210Cys, XP_047276733.1:p.Arg210Cys, XP_047276734.1:p.Arg210Cys

Select item 136413507912.

rs1364135079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73709076 (GRCh38)
7:73123406 (GRCh37)
Canonical SPDI:: NC_000007.14:73709075:C:T
Gene:: STX1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.73709076C>T, NC_000007.13:g.73123406C>T, NG_013360.1:g.15612G>A, NM_004603.4:c.77G>A, NM_004603.3:c.77G>A, NM_001165903.2:c.77G>A, NM_001165903.1:c.77G>A, NW_003871064.1:g.1238312C>T, XM_047420777.1:c.77G>A, XM_047420778.1:c.77G>A, NP_004594.1:p.Arg26Gln, NP_001159375.1:p.Arg26Gln, XP_047276733.1:p.Arg26Gln, XP_047276734.1:p.Arg26Gln

Select item 136177800213.

rs1361778002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:73704220 (GRCh38)
7:73118550 (GRCh37)
Canonical SPDI:: NC_000007.14:73704219:A:T
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.73704220A>T, NC_000007.13:g.73118550A>T, NG_013360.1:g.20468T>A, NM_004603.4:c.394T>A, NM_004603.3:c.394T>A, NM_001165903.2:c.394T>A, NM_001165903.1:c.394T>A, NW_003871064.1:g.1233456A>T, XM_047420777.1:c.394T>A, XM_047420778.1:c.394T>A, NP_004594.1:p.Ser132Thr, NP_001159375.1:p.Ser132Thr, XP_047276733.1:p.Ser132Thr, XP_047276734.1:p.Ser132Thr

Select item 135074088314.

rs1350740883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73703772 (GRCh38)
7:73118102 (GRCh37)
Canonical SPDI:: NC_000007.14:73703771:C:T
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73703772C>T, NC_000007.13:g.73118102C>T, NG_013360.1:g.20916G>A, NM_004603.4:c.523G>A, NM_004603.3:c.523G>A, NM_001165903.2:c.523G>A, NM_001165903.1:c.523G>A, NW_003871064.1:g.1233008C>T, XM_047420777.1:c.523G>A, XM_047420778.1:c.523G>A, NP_004594.1:p.Ala175Thr, NP_001159375.1:p.Ala175Thr, XP_047276733.1:p.Ala175Thr, XP_047276734.1:p.Ala175Thr

Select item 134601474915.

rs1346014749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73708641 (GRCh38)
7:73122971 (GRCh37)
Canonical SPDI:: NC_000007.14:73708640:C:G
Gene:: STX1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.73708641C>G, NC_000007.13:g.73122971C>G, NG_013360.1:g.16047G>C, NM_004603.4:c.156G>C, NM_004603.3:c.156G>C, NM_001165903.2:c.156G>C, NM_001165903.1:c.156G>C, NW_003871064.1:g.1237877C>G, XM_047420777.1:c.156G>C, XM_047420778.1:c.156G>C, NP_004594.1:p.Glu52Asp, NP_001159375.1:p.Glu52Asp, XP_047276733.1:p.Glu52Asp, XP_047276734.1:p.Glu52Asp

Select item 134385651216.

rs1343856512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73719618 (GRCh38)
7:73133948 (GRCh37)
Canonical SPDI:: NC_000007.14:73719617:G:C
Gene:: STX1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.73719618G>C, NC_000007.13:g.73133948G>C, NG_013360.1:g.5070C>G, NM_004603.4:c.14C>G, NM_004603.3:c.14C>G, NM_001165903.2:c.14C>G, NM_001165903.1:c.14C>G, NW_003871064.1:g.1248854G>C, XM_047420777.1:c.14C>G, XM_047420778.1:c.14C>G, NP_004594.1:p.Thr5Ser, NP_001159375.1:p.Thr5Ser, XP_047276733.1:p.Thr5Ser, XP_047276734.1:p.Thr5Ser

Select item 134383886617.

rs1343838866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73708673 (GRCh38)
7:73123003 (GRCh37)
Canonical SPDI:: NC_000007.14:73708672:C:T
Gene:: STX1A (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_000007.14:g.73708673C>T, NC_000007.13:g.73123003C>T, NG_013360.1:g.16015G>A, NM_004603.4:c.124G>A, NM_004603.3:c.124G>A, NM_001165903.2:c.124G>A, NM_001165903.1:c.124G>A, NW_003871064.1:g.1237909C>T, XM_047420777.1:c.124G>A, XM_047420778.1:c.124G>A, NP_004594.1:p.Gly42Ser, NP_001159375.1:p.Gly42Ser, XP_047276733.1:p.Gly42Ser, XP_047276734.1:p.Gly42Ser

Select item 133399199818.

rs1333991998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73700801 (GRCh38)
7:73115131 (GRCh37)
Canonical SPDI:: NC_000007.14:73700800:C:A,NC_000007.14:73700800:C:T
Gene:: STX1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73700801C>A, NC_000007.14:g.73700801C>T, NC_000007.13:g.73115131C>A, NC_000007.13:g.73115131C>T, NG_013360.1:g.23887G>T, NG_013360.1:g.23887G>A, NM_004603.4:c.718G>T, NM_004603.4:c.718G>A, NM_004603.3:c.718G>T, NM_004603.3:c.718G>A, NW_003871064.1:g.1230037C>A, NW_003871064.1:g.1230037C>T, XM_047420777.1:c.*81G>T, XM_047420777.1:c.*81G>A, XM_047420778.1:c.*26G>T, XM_047420778.1:c.*26G>A, NP_004594.1:p.Ala240Ser, NP_004594.1:p.Ala240Thr

Select item 132518892219.

rs1325188922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:73702976 (GRCh38)
7:73117306 (GRCh37)
Canonical SPDI:: NC_000007.14:73702975:T:A
Gene:: STX1A (Varview), LOC105375350 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000038/5 (GnomAD)
HGVS:: NC_000007.14:g.73702976T>A, NC_000007.13:g.73117306T>A, NG_013360.1:g.21712A>T, NM_004603.4:c.547A>T, NM_004603.3:c.547A>T, NM_001165903.2:c.547A>T, NM_001165903.1:c.547A>T, NW_003871064.1:g.1232212T>A, XM_047420777.1:c.547A>T, XM_047420778.1:c.547A>T, NP_004594.1:p.Met183Leu, NP_001159375.1:p.Met183Leu, XP_047276733.1:p.Met183Leu, XP_047276734.1:p.Met183Leu

Select item 131616917820.

rs1316169178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73708622 (GRCh38)
7:73122952 (GRCh37)
Canonical SPDI:: NC_000007.14:73708621:T:C
Gene:: STX1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73708622T>C, NC_000007.13:g.73122952T>C, NG_013360.1:g.16066A>G, NM_004603.4:c.175A>G, NM_004603.3:c.175A>G, NM_001165903.2:c.175A>G, NM_001165903.1:c.175A>G, NW_003871064.1:g.1237858T>C, XM_047420777.1:c.175A>G, XM_047420778.1:c.175A>G, NP_004594.1:p.Ser59Gly, NP_001159375.1:p.Ser59Gly, XP_047276733.1:p.Ser59Gly, XP_047276734.1:p.Ser59Gly

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