SNP Links for Protein (Select 767974768) - SNP

Select item 14895701601.

rs1489570160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103670747 (GRCh38)
12:104064525 (GRCh37)
Canonical SPDI:: NC_000012.12:103670746:C:T
Gene:: STAB2 (Varview), LOC105369946 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,stop_gained,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103670747C>T, NC_000012.11:g.104064525C>T, NM_017564.10:c.2311C>T, NM_017564.9:c.2311C>T, XM_011538538.4:c.2311C>T, XM_011538538.3:c.2311C>T, XM_011538538.2:c.2311C>T, XM_011538538.1:c.2311C>T, XM_011538537.3:c.2311C>T, XM_011538537.2:c.2311C>T, XM_011538537.1:c.2311C>T, XM_011538539.3:c.640C>T, XM_011538539.2:c.640C>T, XM_011538539.1:c.640C>T, XM_017019585.2:c.2311C>T, XM_017019585.1:c.2311C>T, XM_011538541.2:c.-110C>T, XM_011538541.1:c.-110C>T, XR_007063104.1:n.2515C>T, XM_047429103.1:c.2311C>T, NP_060034.9:p.Gln771Ter, XP_011536840.1:p.Gln771Ter, XP_011536839.1:p.Gln771Ter, XP_011536841.1:p.Gln214Ter, XP_016875074.1:p.Gln771Ter, XP_047285059.1:p.Gln771Ter

Select item 14893892912.

rs1489389291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:103669572 (GRCh38)
12:104063350 (GRCh37)
Canonical SPDI:: NC_000012.12:103669571:C:G
Gene:: STAB2 (Varview), LOC105369946 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103669572C>G, NC_000012.11:g.104063350C>G, NM_017564.10:c.2204C>G, NM_017564.9:c.2204C>G, XM_011538538.4:c.2204C>G, XM_011538538.3:c.2204C>G, XM_011538538.2:c.2204C>G, XM_011538538.1:c.2204C>G, XM_011538537.3:c.2204C>G, XM_011538537.2:c.2204C>G, XM_011538537.1:c.2204C>G, XM_011538539.3:c.533C>G, XM_011538539.2:c.533C>G, XM_011538539.1:c.533C>G, XM_017019585.2:c.2204C>G, XM_017019585.1:c.2204C>G, XR_007063104.1:n.2408C>G, XM_047429103.1:c.2204C>G, NP_060034.9:p.Pro735Arg, XP_011536840.1:p.Pro735Arg, XP_011536839.1:p.Pro735Arg, XP_011536841.1:p.Pro178Arg, XP_016875074.1:p.Pro735Arg, XP_047285059.1:p.Pro735Arg

Select item 14892570313.

rs1489257031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103689871 (GRCh38)
12:104083649 (GRCh37)
Canonical SPDI:: NC_000012.12:103689870:C:T
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.103689871C>T, NC_000012.11:g.104083649C>T, NM_017564.10:c.3071C>T, NM_017564.9:c.3071C>T, XM_011538538.4:c.3071C>T, XM_011538538.3:c.3071C>T, XM_011538538.2:c.3071C>T, XM_011538538.1:c.3071C>T, XM_011538537.3:c.3071C>T, XM_011538537.2:c.3071C>T, XM_011538537.1:c.3071C>T, XM_011538539.3:c.1400C>T, XM_011538539.2:c.1400C>T, XM_011538539.1:c.1400C>T, XM_017019585.2:c.3071C>T, XM_017019585.1:c.3071C>T, XM_011538541.2:c.470C>T, XM_011538541.1:c.470C>T, XR_007063104.1:n.3275C>T, XM_047429103.1:c.3071C>T, NP_060034.9:p.Ser1024Leu, XP_011536840.1:p.Ser1024Leu, XP_011536839.1:p.Ser1024Leu, XP_011536841.1:p.Ser467Leu, XP_016875074.1:p.Ser1024Leu, XP_011536843.1:p.Ser157Leu, XP_047285059.1:p.Ser1024Leu

Select item 14889903854.

rs1488990385 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:103662986 (GRCh38)
12:104056764 (GRCh37)
Canonical SPDI:: NC_000012.12:103662985:A:
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.103662986del, NC_000012.11:g.104056764del, NM_017564.10:c.2010del, NM_017564.9:c.2010del, XM_011538538.4:c.2010del, XM_011538538.3:c.2010del, XM_011538538.2:c.2010del, XM_011538538.1:c.2010del, XM_011538537.3:c.2010del, XM_011538537.2:c.2010del, XM_011538537.1:c.2010del, XM_011538539.3:c.339del, XM_011538539.2:c.339del, XM_011538539.1:c.339del, XM_017019585.2:c.2010del, XM_017019585.1:c.2010del, XR_007063104.1:n.2214del, XM_047429103.1:c.2010del, NP_060034.9:p.Glu671fs, XP_011536840.1:p.Glu671fs, XP_011536839.1:p.Glu671fs, XP_011536841.1:p.Glu114fs, XP_016875074.1:p.Glu671fs, XP_047285059.1:p.Glu671fs

Select item 14884905695.

rs1488490569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:103725058 (GRCh38)
12:104118836 (GRCh37)
Canonical SPDI:: NC_000012.12:103725057:T:A
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.103725058T>A, NC_000012.11:g.104118836T>A, NM_017564.10:c.4767T>A, NM_017564.9:c.4767T>A, XM_011538538.4:c.4767T>A, XM_011538538.3:c.4767T>A, XM_011538538.2:c.4767T>A, XM_011538538.1:c.4767T>A, XM_011538537.3:c.4767T>A, XM_011538537.2:c.4767T>A, XM_011538537.1:c.4767T>A, XM_011538539.3:c.3096T>A, XM_011538539.2:c.3096T>A, XM_011538539.1:c.3096T>A, XM_011538542.3:c.828T>A, XM_011538542.2:c.828T>A, XM_011538542.1:c.828T>A, XM_017019585.2:c.4767T>A, XM_017019585.1:c.4767T>A, XM_011538541.2:c.2166T>A, XM_011538541.1:c.2166T>A, XR_007063104.1:n.4971T>A

Select item 14882974086.

rs1488297408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:103677593 (GRCh38)
12:104071371 (GRCh37)
Canonical SPDI:: NC_000012.12:103677592:G:A,NC_000012.12:103677592:G:T
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.103677593G>A, NC_000012.12:g.103677593G>T, NC_000012.11:g.104071371G>A, NC_000012.11:g.104071371G>T, NM_017564.10:c.2787G>A, NM_017564.10:c.2787G>T, NM_017564.9:c.2787G>A, NM_017564.9:c.2787G>T, XM_011538538.4:c.2787G>A, XM_011538538.4:c.2787G>T, XM_011538538.3:c.2787G>A, XM_011538538.3:c.2787G>T, XM_011538538.2:c.2787G>A, XM_011538538.2:c.2787G>T, XM_011538538.1:c.2787G>A, XM_011538538.1:c.2787G>T, XM_011538537.3:c.2787G>A, XM_011538537.3:c.2787G>T, XM_011538537.2:c.2787G>A, XM_011538537.2:c.2787G>T, XM_011538537.1:c.2787G>A, XM_011538537.1:c.2787G>T, XM_011538539.3:c.1116G>A, XM_011538539.3:c.1116G>T, XM_011538539.2:c.1116G>A, XM_011538539.2:c.1116G>T, XM_011538539.1:c.1116G>A, XM_011538539.1:c.1116G>T, XM_017019585.2:c.2787G>A, XM_017019585.2:c.2787G>T, XM_017019585.1:c.2787G>A, XM_017019585.1:c.2787G>T, XM_011538541.2:c.186G>A, XM_011538541.2:c.186G>T, XM_011538541.1:c.186G>A, XM_011538541.1:c.186G>T, XR_007063104.1:n.2991G>A, XR_007063104.1:n.2991G>T, XM_047429103.1:c.2787G>A, XM_047429103.1:c.2787G>T, NP_060034.9:p.Leu929Phe, XP_011536840.1:p.Leu929Phe, XP_011536839.1:p.Leu929Phe, XP_011536841.1:p.Leu372Phe, XP_016875074.1:p.Leu929Phe, XP_011536843.1:p.Leu62Phe, XP_047285059.1:p.Leu929Phe

Select item 14879359157.

rs1487935915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:103724991 (GRCh38)
12:104118769 (GRCh37)
Canonical SPDI:: NC_000012.12:103724990:G:T
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103724991G>T, NC_000012.11:g.104118769G>T, NM_017564.10:c.4700G>T, NM_017564.9:c.4700G>T, XM_011538538.4:c.4700G>T, XM_011538538.3:c.4700G>T, XM_011538538.2:c.4700G>T, XM_011538538.1:c.4700G>T, XM_011538537.3:c.4700G>T, XM_011538537.2:c.4700G>T, XM_011538537.1:c.4700G>T, XM_011538539.3:c.3029G>T, XM_011538539.2:c.3029G>T, XM_011538539.1:c.3029G>T, XM_011538542.3:c.761G>T, XM_011538542.2:c.761G>T, XM_011538542.1:c.761G>T, XM_017019585.2:c.4700G>T, XM_017019585.1:c.4700G>T, XM_011538541.2:c.2099G>T, XM_011538541.1:c.2099G>T, XR_007063104.1:n.4904G>T, NP_060034.9:p.Ser1567Ile, XP_011536840.1:p.Ser1567Ile, XP_011536839.1:p.Ser1567Ile, XP_011536841.1:p.Ser1010Ile, XP_011536844.1:p.Ser254Ile, XP_016875074.1:p.Ser1567Ile, XP_011536843.1:p.Ser700Ile

Select item 14870894878.

rs1487089487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103728907 (GRCh38)
12:104122685 (GRCh37)
Canonical SPDI:: NC_000012.12:103728906:C:T
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103728907C>T, NC_000012.11:g.104122685C>T, NM_017564.10:c.4994C>T, NM_017564.9:c.4994C>T, XM_011538538.4:c.4994C>T, XM_011538538.3:c.4994C>T, XM_011538538.2:c.4994C>T, XM_011538538.1:c.4994C>T, XM_011538537.3:c.4994C>T, XM_011538537.2:c.4994C>T, XM_011538537.1:c.4994C>T, XM_011538539.3:c.3323C>T, XM_011538539.2:c.3323C>T, XM_011538539.1:c.3323C>T, XM_011538542.3:c.1055C>T, XM_011538542.2:c.1055C>T, XM_011538542.1:c.1055C>T, XM_017019585.2:c.4994C>T, XM_017019585.1:c.4994C>T, XM_011538541.2:c.2393C>T, XM_011538541.1:c.2393C>T, XR_007063104.1:n.5198C>T, NP_060034.9:p.Ala1665Val, XP_011536840.1:p.Ala1665Val, XP_011536839.1:p.Ala1665Val, XP_011536841.1:p.Ala1108Val, XP_011536844.1:p.Ala352Val, XP_016875074.1:p.Ala1665Val, XP_011536843.1:p.Ala798Val

Select item 14868940099.

rs1486894009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103750708 (GRCh38)
12:104144486 (GRCh37)
Canonical SPDI:: NC_000012.12:103750707:C:T
Gene:: NT5DC3 (Varview), STAB2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.103750708C>T, NC_000012.11:g.104144486C>T, NM_017564.10:c.6568C>T, NM_017564.9:c.6568C>T, XM_011538538.4:c.6568C>T, XM_011538538.3:c.6568C>T, XM_011538538.2:c.6568C>T, XM_011538538.1:c.6568C>T, XM_011538537.3:c.6568C>T, XM_011538537.2:c.6568C>T, XM_011538537.1:c.6568C>T, XM_011538539.3:c.4897C>T, XM_011538539.2:c.4897C>T, XM_011538539.1:c.4897C>T, XM_011538542.3:c.2629C>T, XM_011538542.2:c.2629C>T, XM_011538542.1:c.2629C>T, XM_017019585.2:c.6568C>T, XM_017019585.1:c.6568C>T, XM_011538541.2:c.3967C>T, XM_011538541.1:c.3967C>T, XR_007063104.1:n.6772C>T, NP_060034.9:p.Leu2190Phe, XP_011536840.1:p.Leu2190Phe, XP_011536839.1:p.Leu2190Phe, XP_011536841.1:p.Leu1633Phe, XP_011536844.1:p.Leu877Phe, XP_016875074.1:p.Leu2190Phe, XP_011536843.1:p.Leu1323Phe

Select item 148612209410.

rs1486122094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:103674076 (GRCh38)
12:104067854 (GRCh37)
Canonical SPDI:: NC_000012.12:103674075:T:G
Gene:: STAB2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103674076T>G, NC_000012.11:g.104067854T>G, NM_017564.10:c.2541T>G, NM_017564.9:c.2541T>G, XM_011538538.4:c.2541T>G, XM_011538538.3:c.2541T>G, XM_011538538.2:c.2541T>G, XM_011538538.1:c.2541T>G, XM_011538537.3:c.2541T>G, XM_011538537.2:c.2541T>G, XM_011538537.1:c.2541T>G, XM_011538539.3:c.870T>G, XM_011538539.2:c.870T>G, XM_011538539.1:c.870T>G, XM_017019585.2:c.2541T>G, XM_017019585.1:c.2541T>G, XR_007063104.1:n.2745T>G, XM_047429103.1:c.2541T>G, NP_060034.9:p.Asn847Lys, XP_011536840.1:p.Asn847Lys, XP_011536839.1:p.Asn847Lys, XP_011536841.1:p.Asn290Lys, XP_016875074.1:p.Asn847Lys, XP_047285059.1:p.Asn847Lys

Select item 148604524011.

rs1486045240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:103713703 (GRCh38)
12:104107481 (GRCh37)
Canonical SPDI:: NC_000012.12:103713702:C:A
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.103713703C>A, NC_000012.11:g.104107481C>A, NM_017564.10:c.4472C>A, NM_017564.9:c.4472C>A, XM_011538538.4:c.4472C>A, XM_011538538.3:c.4472C>A, XM_011538538.2:c.4472C>A, XM_011538538.1:c.4472C>A, XM_011538537.3:c.4472C>A, XM_011538537.2:c.4472C>A, XM_011538537.1:c.4472C>A, XM_011538539.3:c.2801C>A, XM_011538539.2:c.2801C>A, XM_011538539.1:c.2801C>A, XM_011538542.3:c.533C>A, XM_011538542.2:c.533C>A, XM_011538542.1:c.533C>A, XM_017019585.2:c.4472C>A, XM_017019585.1:c.4472C>A, XM_011538541.2:c.1871C>A, XM_011538541.1:c.1871C>A, XR_007063104.1:n.4676C>A, NP_060034.9:p.Thr1491Asn, XP_011536840.1:p.Thr1491Asn, XP_011536839.1:p.Thr1491Asn, XP_011536841.1:p.Thr934Asn, XP_011536844.1:p.Thr178Asn, XP_016875074.1:p.Thr1491Asn, XP_011536843.1:p.Thr624Asn

Select item 148546861612.

rs1485468616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:103683264 (GRCh38)
12:104077042 (GRCh37)
Canonical SPDI:: NC_000012.12:103683263:T:A
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103683264T>A, NC_000012.11:g.104077042T>A, NM_017564.10:c.2865T>A, NM_017564.9:c.2865T>A, XM_011538538.4:c.2865T>A, XM_011538538.3:c.2865T>A, XM_011538538.2:c.2865T>A, XM_011538538.1:c.2865T>A, XM_011538537.3:c.2865T>A, XM_011538537.2:c.2865T>A, XM_011538537.1:c.2865T>A, XM_011538539.3:c.1194T>A, XM_011538539.2:c.1194T>A, XM_011538539.1:c.1194T>A, XM_017019585.2:c.2865T>A, XM_017019585.1:c.2865T>A, XM_011538541.2:c.264T>A, XM_011538541.1:c.264T>A, XR_007063104.1:n.3069T>A, XM_047429103.1:c.2865T>A

Select item 148534602013.

rs1485346020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:103668717 (GRCh38)
12:104062495 (GRCh37)
Canonical SPDI:: NC_000012.12:103668716:T:C
Gene:: STAB2 (Varview), LOC105369946 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00003/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.103668717T>C, NC_000012.11:g.104062495T>C, NM_017564.10:c.2160T>C, NM_017564.9:c.2160T>C, XM_011538538.4:c.2160T>C, XM_011538538.3:c.2160T>C, XM_011538538.2:c.2160T>C, XM_011538538.1:c.2160T>C, XM_011538537.3:c.2160T>C, XM_011538537.2:c.2160T>C, XM_011538537.1:c.2160T>C, XM_011538539.3:c.489T>C, XM_011538539.2:c.489T>C, XM_011538539.1:c.489T>C, XR_945285.3:n.414A>G, XR_945285.2:n.693A>G, XM_017019585.2:c.2160T>C, XM_017019585.1:c.2160T>C, XR_007063104.1:n.2364T>C, XM_047429103.1:c.2160T>C

Select item 148518341514.

rs1485183415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:103638032 (GRCh38)
12:104031810 (GRCh37)
Canonical SPDI:: NC_000012.12:103638031:A:C
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000012.12:g.103638032A>C, NC_000012.11:g.104031810A>C, NM_017564.10:c.726A>C, NM_017564.9:c.726A>C, XM_011538538.4:c.726A>C, XM_011538538.3:c.726A>C, XM_011538538.2:c.726A>C, XM_011538538.1:c.726A>C, XM_011538537.3:c.726A>C, XM_011538537.2:c.726A>C, XM_011538537.1:c.726A>C, XM_017019585.2:c.726A>C, XM_017019585.1:c.726A>C, XR_007063104.1:n.930A>C, XM_047429103.1:c.726A>C, NP_060034.9:p.Leu242Phe, XP_011536840.1:p.Leu242Phe, XP_011536839.1:p.Leu242Phe, XP_016875074.1:p.Leu242Phe, XP_047285059.1:p.Leu242Phe

Select item 148477419515.

rs1484774195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103705664 (GRCh38)
12:104099442 (GRCh37)
Canonical SPDI:: NC_000012.12:103705663:C:T
Gene:: STAB2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.103705664C>T, NC_000012.11:g.104099442C>T, NM_017564.10:c.3933C>T, NM_017564.9:c.3933C>T, XM_011538538.4:c.3933C>T, XM_011538538.3:c.3933C>T, XM_011538538.2:c.3933C>T, XM_011538538.1:c.3933C>T, XM_011538537.3:c.3933C>T, XM_011538537.2:c.3933C>T, XM_011538537.1:c.3933C>T, XM_011538539.3:c.2262C>T, XM_011538539.2:c.2262C>T, XM_011538539.1:c.2262C>T, XM_011538542.3:c.-7C>T, XM_011538542.2:c.-7C>T, XM_011538542.1:c.-7C>T, XM_017019585.2:c.3933C>T, XM_017019585.1:c.3933C>T, XM_011538541.2:c.1332C>T, XM_011538541.1:c.1332C>T, XR_007063104.1:n.4137C>T

Select item 148437852416.

rs1484378524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:103668727 (GRCh38)
12:104062505 (GRCh37)
Canonical SPDI:: NC_000012.12:103668726:A:G
Gene:: STAB2 (Varview), LOC105369946 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103668727A>G, NC_000012.11:g.104062505A>G, NM_017564.10:c.2170A>G, NM_017564.9:c.2170A>G, XM_011538538.4:c.2170A>G, XM_011538538.3:c.2170A>G, XM_011538538.2:c.2170A>G, XM_011538538.1:c.2170A>G, XM_011538537.3:c.2170A>G, XM_011538537.2:c.2170A>G, XM_011538537.1:c.2170A>G, XM_011538539.3:c.499A>G, XM_011538539.2:c.499A>G, XM_011538539.1:c.499A>G, XR_945285.3:n.404T>C, XR_945285.2:n.683T>C, XM_017019585.2:c.2170A>G, XM_017019585.1:c.2170A>G, XR_007063104.1:n.2374A>G, XM_047429103.1:c.2170A>G, NP_060034.9:p.Lys724Glu, XP_011536840.1:p.Lys724Glu, XP_011536839.1:p.Lys724Glu, XP_011536841.1:p.Lys167Glu, XP_016875074.1:p.Lys724Glu, XP_047285059.1:p.Lys724Glu

Select item 148412503217.

rs1484125032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:103740750 (GRCh38)
12:104134528 (GRCh37)
Canonical SPDI:: NC_000012.12:103740749:T:C
Gene:: STAB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103740750T>C, NC_000012.11:g.104134528T>C, NM_017564.10:c.5875T>C, NM_017564.9:c.5875T>C, XM_011538538.4:c.5875T>C, XM_011538538.3:c.5875T>C, XM_011538538.2:c.5875T>C, XM_011538538.1:c.5875T>C, XM_011538537.3:c.5875T>C, XM_011538537.2:c.5875T>C, XM_011538537.1:c.5875T>C, XM_011538539.3:c.4204T>C, XM_011538539.2:c.4204T>C, XM_011538539.1:c.4204T>C, XM_011538542.3:c.1936T>C, XM_011538542.2:c.1936T>C, XM_011538542.1:c.1936T>C, XM_017019585.2:c.5875T>C, XM_017019585.1:c.5875T>C, XM_011538541.2:c.3274T>C, XM_011538541.1:c.3274T>C, XR_007063104.1:n.6079T>C, NP_060034.9:p.Cys1959Arg, XP_011536840.1:p.Cys1959Arg, XP_011536839.1:p.Cys1959Arg, XP_011536841.1:p.Cys1402Arg, XP_011536844.1:p.Cys646Arg, XP_016875074.1:p.Cys1959Arg, XP_011536843.1:p.Cys1092Arg

Select item 148409526018.

rs1484095260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:103746652 (GRCh38)
12:104140430 (GRCh37)
Canonical SPDI:: NC_000012.12:103746651:C:T
Gene:: NT5DC3 (Varview), STAB2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.103746652C>T, NC_000012.11:g.104140430C>T, NM_017564.10:c.6192C>T, NM_017564.9:c.6192C>T, XM_011538538.4:c.6192C>T, XM_011538538.3:c.6192C>T, XM_011538538.2:c.6192C>T, XM_011538538.1:c.6192C>T, XM_011538537.3:c.6192C>T, XM_011538537.2:c.6192C>T, XM_011538537.1:c.6192C>T, XM_011538539.3:c.4521C>T, XM_011538539.2:c.4521C>T, XM_011538539.1:c.4521C>T, XM_011538542.3:c.2253C>T, XM_011538542.2:c.2253C>T, XM_011538542.1:c.2253C>T, XM_017019585.2:c.6192C>T, XM_017019585.1:c.6192C>T, XM_011538541.2:c.3591C>T, XM_011538541.1:c.3591C>T, XR_007063104.1:n.6396C>T

Select item 148377592419.

rs1483775924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:103692849 (GRCh38)
12:104086627 (GRCh37)
Canonical SPDI:: NC_000012.12:103692848:A:G
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.103692849A>G, NC_000012.11:g.104086627A>G, NM_017564.10:c.3335A>G, NM_017564.9:c.3335A>G, XM_011538538.4:c.3335A>G, XM_011538538.3:c.3335A>G, XM_011538538.2:c.3335A>G, XM_011538538.1:c.3335A>G, XM_011538537.3:c.3335A>G, XM_011538537.2:c.3335A>G, XM_011538537.1:c.3335A>G, XM_011538539.3:c.1664A>G, XM_011538539.2:c.1664A>G, XM_011538539.1:c.1664A>G, XM_017019585.2:c.3335A>G, XM_017019585.1:c.3335A>G, XM_011538541.2:c.734A>G, XM_011538541.1:c.734A>G, XR_007063104.1:n.3539A>G, XM_047429103.1:c.3335A>G, NP_060034.9:p.Asp1112Gly, XP_011536840.1:p.Asp1112Gly, XP_011536839.1:p.Asp1112Gly, XP_011536841.1:p.Asp555Gly, XP_016875074.1:p.Asp1112Gly, XP_011536843.1:p.Asp245Gly, XP_047285059.1:p.Asp1112Gly

Select item 148377209620.

rs1483772096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:103620519 (GRCh38)
12:104014297 (GRCh37)
Canonical SPDI:: NC_000012.12:103620518:A:T
Gene:: STAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000012.12:g.103620519A>T, NC_000012.11:g.104014297A>T, NM_017564.10:c.383A>T, NM_017564.9:c.383A>T, XM_011538538.4:c.383A>T, XM_011538538.3:c.383A>T, XM_011538538.2:c.383A>T, XM_011538538.1:c.383A>T, XM_011538537.3:c.383A>T, XM_011538537.2:c.383A>T, XM_011538537.1:c.383A>T, XM_017019585.2:c.383A>T, XM_017019585.1:c.383A>T, XR_007063104.1:n.587A>T, XM_047429103.1:c.383A>T, NP_060034.9:p.Glu128Val, XP_011536840.1:p.Glu128Val, XP_011536839.1:p.Glu128Val, XP_016875074.1:p.Glu128Val, XP_047285059.1:p.Glu128Val

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 2435

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