SNP Links for Protein (Select 386268025) - SNP

Select item 14900432161.

rs1490043216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:96230802 (GRCh38)
10:97990558 (GRCh37)
Canonical SPDI:: NC_000010.11:96230801:C:T
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.96230802C>T, NW_003871070.1:g.48812G>A, NG_007575.1:g.50769G>A, NM_013314.4:c.196G>A, NM_013314.3:c.196G>A, NM_001114094.2:c.196G>A, NM_001114094.1:c.196G>A, NM_001258440.2:c.196G>A, NM_001258440.1:c.196G>A, NR_047680.2:n.367G>A, NR_047680.1:n.314G>A, NM_001258441.2:c.196G>A, NM_001258441.1:c.196G>A, NR_047681.2:n.372G>A, NR_047681.1:n.319G>A, NR_047682.2:n.367G>A, NR_047682.1:n.314G>A, NR_047683.2:n.367G>A, NR_047683.1:n.314G>A, NM_001258442.2:c.196G>A, NM_001258442.1:c.196G>A, NC_000010.10:g.97990558C>T, NP_037446.1:p.Asp66Asn, NP_001107566.1:p.Asp66Asn, NP_001245369.1:p.Asp66Asn, NP_001245370.1:p.Asp66Asn, NP_001245371.1:p.Asp66Asn

Select item 14856304492.

rs1485630449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:96191991 (GRCh38)
10:97951747 (GRCh37)
Canonical SPDI:: NC_000010.11:96191990:A:G
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.96191991A>G, NW_003871070.1:g.87623T>C, NG_033267.2:g.67772A>G, NG_007575.1:g.89580T>C, NM_013314.4:c.1353T>C, NM_013314.3:c.1353T>C, NM_001114094.2:c.1284T>C, NM_001114094.1:c.1284T>C, NM_001258440.2:c.1197T>C, NM_001258440.1:c.1197T>C, NR_047680.2:n.1348T>C, NR_047680.1:n.1295T>C, NM_001258441.2:c.1128T>C, NM_001258441.1:c.1128T>C, NR_047681.2:n.1296T>C, NR_047681.1:n.1243T>C, NR_047682.2:n.1291T>C, NR_047682.1:n.1238T>C, NR_047683.2:n.1229T>C, NR_047683.1:n.1176T>C, NM_001258442.2:c.882T>C, NM_001258442.1:c.882T>C, NC_000010.10:g.97951747A>G

Select item 14847158913.

rs1484715891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:96192009 (GRCh38)
10:97951765 (GRCh37)
Canonical SPDI:: NC_000010.11:96192008:A:T
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.96192009A>T, NW_003871070.1:g.87605T>A, NG_033267.2:g.67790A>T, NG_007575.1:g.89562T>A, NM_013314.4:c.1335T>A, NM_013314.3:c.1335T>A, NM_001114094.2:c.1266T>A, NM_001114094.1:c.1266T>A, NM_001258440.2:c.1179T>A, NM_001258440.1:c.1179T>A, NR_047680.2:n.1330T>A, NR_047680.1:n.1277T>A, NM_001258441.2:c.1110T>A, NM_001258441.1:c.1110T>A, NR_047681.2:n.1278T>A, NR_047681.1:n.1225T>A, NR_047682.2:n.1273T>A, NR_047682.1:n.1220T>A, NR_047683.2:n.1211T>A, NR_047683.1:n.1158T>A, NM_001258442.2:c.864T>A, NM_001258442.1:c.864T>A, NC_000010.10:g.97951765A>T, NP_037446.1:p.Asp445Glu, NP_001107566.1:p.Asp422Glu, NP_001245369.1:p.Asp393Glu, NP_001245370.1:p.Asp370Glu, NP_001245371.1:p.Asp288Glu

Select item 14718442244.

rs1471844224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96216696 (GRCh38)
10:97976452 (GRCh37)
Canonical SPDI:: NC_000010.11:96216695:G:A
Gene:: BLNK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.96216696G>A, NW_003871070.1:g.62918C>T, NG_007575.1:g.64875C>T, NM_013314.4:c.564C>T, NM_013314.3:c.564C>T, NM_001114094.2:c.564C>T, NM_001114094.1:c.564C>T, NM_001258440.2:c.564C>T, NM_001258440.1:c.564C>T, NR_047680.2:n.559C>T, NR_047680.1:n.506C>T, NM_001258441.2:c.564C>T, NM_001258441.1:c.564C>T, NR_047681.2:n.576C>T, NR_047681.1:n.523C>T, NR_047682.2:n.571C>T, NR_047682.1:n.518C>T, NR_047683.2:n.735C>T, NR_047683.1:n.682C>T, NC_000010.10:g.97976452G>A

Select item 14577861045.

rs1457786104 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGG>- [Show Flanks]
Chromosome:: 10:96216663 (GRCh38)
10:97976419 (GRCh37)
Canonical SPDI:: NC_000010.11:96216660:GGTGG:GG
Gene:: BLNK (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.96216663_96216665del, NW_003871070.1:g.62951_62953del, NG_007575.1:g.64908_64910del, NM_013314.4:c.597_599del, NM_013314.3:c.597_599del, NM_001114094.2:c.597_599del, NM_001114094.1:c.597_599del, NM_001258440.2:c.597_599del, NM_001258440.1:c.597_599del, NR_047680.2:n.592_594del, NR_047680.1:n.539_541del, NM_001258441.2:c.597_599del, NM_001258441.1:c.597_599del, NR_047681.2:n.609_611del, NR_047681.1:n.556_558del, NR_047682.2:n.604_606del, NR_047682.1:n.551_553del, NR_047683.2:n.768_770del, NR_047683.1:n.715_717del, NC_000010.10:g.97976419_97976421del, NP_037446.1:p.Pro200del, NP_001107566.1:p.Pro200del, NP_001245369.1:p.Pro200del, NP_001245370.1:p.Pro200del

Select item 14498384376.

rs1449838437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:96192065 (GRCh38)
10:97951821 (GRCh37)
Canonical SPDI:: NC_000010.11:96192064:T:C
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_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_000010.11:g.96192065T>C, NW_003871070.1:g.87549A>G, NG_033267.2:g.67846T>C, NG_007575.1:g.89506A>G, NM_013314.4:c.1279A>G, NM_013314.3:c.1279A>G, NM_001114094.2:c.1210A>G, NM_001114094.1:c.1210A>G, NM_001258440.2:c.1123A>G, NM_001258440.1:c.1123A>G, NR_047680.2:n.1274A>G, NR_047680.1:n.1221A>G, NM_001258441.2:c.1054A>G, NM_001258441.1:c.1054A>G, NR_047681.2:n.1222A>G, NR_047681.1:n.1169A>G, NR_047682.2:n.1217A>G, NR_047682.1:n.1164A>G, NR_047683.2:n.1155A>G, NR_047683.1:n.1102A>G, NM_001258442.2:c.808A>G, NM_001258442.1:c.808A>G, NC_000010.10:g.97951821T>C, NP_037446.1:p.Arg427Gly, NP_001107566.1:p.Arg404Gly, NP_001245369.1:p.Arg375Gly, NP_001245370.1:p.Arg352Gly, NP_001245371.1:p.Arg270Gly

Select item 14430103997.

rs1443010399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:96223854 (GRCh38)
10:97983610 (GRCh37)
Canonical SPDI:: NC_000010.11:96223853:G:T
Gene:: BLNK (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,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_000010.11:g.96223854G>T, NW_003871070.1:g.55760C>A, NG_007575.1:g.57717C>A, NM_013314.4:c.497C>A, NM_013314.3:c.497C>A, NM_001114094.2:c.497C>A, NM_001114094.1:c.497C>A, NM_001258440.2:c.497C>A, NM_001258440.1:c.497C>A, NM_001258441.2:c.497C>A, NM_001258441.1:c.497C>A, NR_047683.2:n.668C>A, NR_047683.1:n.615C>A, NC_000010.10:g.97983610G>T, NP_037446.1:p.Pro166His, NP_001107566.1:p.Pro166His, NP_001245369.1:p.Pro166His, NP_001245370.1:p.Pro166His

Select item 14343314718.

rs1434331471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:96227436 (GRCh38)
10:97987192 (GRCh37)
Canonical SPDI:: NC_000010.11:96227435:A:G
Gene:: BLNK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.96227436A>G, NW_003871070.1:g.52178T>C, NG_007575.1:g.54135T>C, NM_013314.4:c.335T>C, NM_013314.3:c.335T>C, NM_001114094.2:c.335T>C, NM_001114094.1:c.335T>C, NM_001258440.2:c.335T>C, NM_001258440.1:c.335T>C, NR_047680.2:n.506T>C, NR_047680.1:n.453T>C, NM_001258441.2:c.335T>C, NM_001258441.1:c.335T>C, NR_047681.2:n.511T>C, NR_047681.1:n.458T>C, NR_047682.2:n.506T>C, NR_047682.1:n.453T>C, NR_047683.2:n.506T>C, NR_047683.1:n.453T>C, NM_001258442.2:c.335T>C, NM_001258442.1:c.335T>C, NC_000010.10:g.97987192A>G, NP_037446.1:p.Leu112Pro, NP_001107566.1:p.Leu112Pro, NP_001245369.1:p.Leu112Pro, NP_001245370.1:p.Leu112Pro, NP_001245371.1:p.Leu112Pro

Select item 14252990399.

rs1425299039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:96204539 (GRCh38)
10:97964295 (GRCh37)
Canonical SPDI:: NC_000010.11:96204538:C:G
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.96204539C>G, NW_003871070.1:g.75075G>C, NG_033267.2:g.80320C>G, NR_138482.1:n.1104C>G, NG_007575.1:g.77032G>C, NM_013314.4:c.895G>C, NM_013314.3:c.895G>C, NM_001114094.2:c.826G>C, NM_001114094.1:c.826G>C, NM_001258440.2:c.895G>C, NM_001258440.1:c.895G>C, NR_047680.2:n.890G>C, NR_047680.1:n.837G>C, NM_001258441.2:c.826G>C, NM_001258441.1:c.826G>C, NR_047681.2:n.838G>C, NR_047681.1:n.785G>C, NR_047682.2:n.833G>C, NR_047682.1:n.780G>C, NR_047683.2:n.927G>C, NR_047683.1:n.874G>C, NM_001258442.2:c.580G>C, NM_001258442.1:c.580G>C, NC_000010.10:g.97964295C>G, NP_037446.1:p.Ala299Pro, NP_001107566.1:p.Ala276Pro, NP_001245369.1:p.Ala299Pro, NP_001245370.1:p.Ala276Pro, NP_001245371.1:p.Ala194Pro

Select item 141797369410.

rs1417973694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:96230833 (GRCh38)
10:97990589 (GRCh37)
Canonical SPDI:: NC_000010.11:96230832:C:G
Gene:: BLNK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.96230833C>G, NW_003871070.1:g.48781G>C, NG_007575.1:g.50738G>C, NM_013314.4:c.165G>C, NM_013314.3:c.165G>C, NM_001114094.2:c.165G>C, NM_001114094.1:c.165G>C, NM_001258440.2:c.165G>C, NM_001258440.1:c.165G>C, NR_047680.2:n.336G>C, NR_047680.1:n.283G>C, NM_001258441.2:c.165G>C, NM_001258441.1:c.165G>C, NR_047681.2:n.341G>C, NR_047681.1:n.288G>C, NR_047682.2:n.336G>C, NR_047682.1:n.283G>C, NR_047683.2:n.336G>C, NR_047683.1:n.283G>C, NM_001258442.2:c.165G>C, NM_001258442.1:c.165G>C, NC_000010.10:g.97990589C>G, NP_037446.1:p.Glu55Asp, NP_001107566.1:p.Glu55Asp, NP_001245369.1:p.Glu55Asp, NP_001245370.1:p.Glu55Asp, NP_001245371.1:p.Glu55Asp

Select item 141271102311.

rs1412711023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96201004 (GRCh38)
10:97960760 (GRCh37)
Canonical SPDI:: NC_000010.11:96201003:G:A
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_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_000010.11:g.96201004G>A, NW_003871070.1:g.78610C>T, NG_033267.2:g.76785G>A, NG_007575.1:g.80567C>T, NM_013314.4:c.989C>T, NM_013314.3:c.989C>T, NM_001114094.2:c.920C>T, NM_001114094.1:c.920C>T, NM_001258440.2:c.989C>T, NM_001258440.1:c.989C>T, NR_047680.2:n.984C>T, NR_047680.1:n.931C>T, NM_001258441.2:c.920C>T, NM_001258441.1:c.920C>T, NR_047681.2:n.932C>T, NR_047681.1:n.879C>T, NR_047682.2:n.927C>T, NR_047682.1:n.874C>T, NR_047683.2:n.1021C>T, NR_047683.1:n.968C>T, NM_001258442.2:c.674C>T, NM_001258442.1:c.674C>T, NC_000010.10:g.97960760G>A, NP_037446.1:p.Ser330Phe, NP_001107566.1:p.Ser307Phe, NP_001245369.1:p.Ser330Phe, NP_001245370.1:p.Ser307Phe, NP_001245371.1:p.Ser225Phe

Select item 140928783612.

rs1409287836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:96207034 (GRCh38)
10:97966790 (GRCh37)
Canonical SPDI:: NC_000010.11:96207033:T:C
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.96207034T>C, NW_003871070.1:g.72580A>G, NG_033267.2:g.82815T>C, NG_007575.1:g.74537A>G, NM_013314.4:c.794A>G, NM_013314.3:c.794A>G, NM_001114094.2:c.725A>G, NM_001114094.1:c.725A>G, NM_001258440.2:c.794A>G, NM_001258440.1:c.794A>G, NR_047680.2:n.789A>G, NR_047680.1:n.736A>G, NM_001258441.2:c.725A>G, NM_001258441.1:c.725A>G, NR_047681.2:n.737A>G, NR_047681.1:n.684A>G, NR_047682.2:n.732A>G, NR_047682.1:n.679A>G, NR_047683.2:n.826A>G, NR_047683.1:n.773A>G, NM_001258442.2:c.479A>G, NM_001258442.1:c.479A>G, NC_000010.10:g.97966790T>C, NP_037446.1:p.Gln265Arg, NP_001107566.1:p.Gln242Arg, NP_001245369.1:p.Gln265Arg, NP_001245370.1:p.Gln242Arg, NP_001245371.1:p.Gln160Arg

Select item 140855327313.

rs1408553273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:96209857 (GRCh38)
10:97969613 (GRCh37)
Canonical SPDI:: NC_000010.11:96209856:A:C
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.96209857A>C, NW_003871070.1:g.69757T>G, NG_007575.1:g.71714T>G, NM_013314.4:c.727T>G, NM_013314.3:c.727T>G, NM_001114094.2:c.658T>G, NM_001114094.1:c.658T>G, NM_001258440.2:c.727T>G, NM_001258440.1:c.727T>G, NR_047680.2:n.722T>G, NR_047680.1:n.669T>G, NM_001258441.2:c.658T>G, NM_001258441.1:c.658T>G, NR_047681.2:n.670T>G, NR_047681.1:n.617T>G, NR_047682.2:n.665T>G, NR_047682.1:n.612T>G, NM_001258442.2:c.412T>G, NM_001258442.1:c.412T>G, NC_000010.10:g.97969613A>C, NP_037446.1:p.Ser243Ala, NP_001107566.1:p.Ser220Ala, NP_001245369.1:p.Ser243Ala, NP_001245370.1:p.Ser220Ala, NP_001245371.1:p.Ser138Ala

Select item 138955112814.

rs1389551128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:96200128 (GRCh38)
10:97959884 (GRCh37)
Canonical SPDI:: NC_000010.11:96200127:C:A
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.96200128C>A, NW_003871070.1:g.79486G>T, NG_033267.2:g.75909C>A, NG_007575.1:g.81443G>T, NM_013314.4:c.1042G>T, NM_013314.3:c.1042G>T, NM_001114094.2:c.973G>T, NM_001114094.1:c.973G>T, NM_001258440.2:c.1042G>T, NM_001258440.1:c.1042G>T, NR_047680.2:n.1037G>T, NR_047680.1:n.984G>T, NM_001258441.2:c.973G>T, NM_001258441.1:c.973G>T, NR_047681.2:n.985G>T, NR_047681.1:n.932G>T, NR_047682.2:n.980G>T, NR_047682.1:n.927G>T, NR_047683.2:n.1074G>T, NR_047683.1:n.1021G>T, NM_001258442.2:c.727G>T, NM_001258442.1:c.727G>T, NC_000010.10:g.97959884C>A, NP_037446.1:p.Ala348Ser, NP_001107566.1:p.Ala325Ser, NP_001245369.1:p.Ala348Ser, NP_001245370.1:p.Ala325Ser, NP_001245371.1:p.Ala243Ser

Select item 138758176515.

rs1387581765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:96242768 (GRCh38)
10:98002524 (GRCh37)
Canonical SPDI:: NC_000010.11:96242767:G:T
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_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_000010.11:g.96242768G>T, NW_003871070.1:g.36846C>A, NG_007575.1:g.38803C>A, NM_013314.4:c.130C>A, NM_013314.3:c.130C>A, NM_001114094.2:c.130C>A, NM_001114094.1:c.130C>A, NM_001258440.2:c.130C>A, NM_001258440.1:c.130C>A, NR_047680.2:n.301C>A, NR_047680.1:n.248C>A, NM_001258441.2:c.130C>A, NM_001258441.1:c.130C>A, NR_047681.2:n.301C>A, NR_047681.1:n.248C>A, NR_047682.2:n.301C>A, NR_047682.1:n.248C>A, NR_047683.2:n.301C>A, NR_047683.1:n.248C>A, NM_001258442.2:c.130C>A, NM_001258442.1:c.130C>A, NC_000010.10:g.98002524G>T, NP_037446.1:p.Pro44Thr, NP_001107566.1:p.Pro44Thr, NP_001245369.1:p.Pro44Thr, NP_001245370.1:p.Pro44Thr, NP_001245371.1:p.Pro44Thr

Select item 138696227316.

rs1386962273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96209874 (GRCh38)
10:97969630 (GRCh37)
Canonical SPDI:: NC_000010.11:96209873:G:A
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000010.11:g.96209874G>A, NW_003871070.1:g.69740C>T, NG_007575.1:g.71697C>T, NM_013314.4:c.710C>T, NM_013314.3:c.710C>T, NM_001114094.2:c.641C>T, NM_001114094.1:c.641C>T, NM_001258440.2:c.710C>T, NM_001258440.1:c.710C>T, NR_047680.2:n.705C>T, NR_047680.1:n.652C>T, NM_001258441.2:c.641C>T, NM_001258441.1:c.641C>T, NR_047681.2:n.653C>T, NR_047681.1:n.600C>T, NR_047682.2:n.648C>T, NR_047682.1:n.595C>T, NM_001258442.2:c.395C>T, NM_001258442.1:c.395C>T, NC_000010.10:g.97969630G>A, NP_037446.1:p.Pro237Leu, NP_001107566.1:p.Pro214Leu, NP_001245369.1:p.Pro237Leu, NP_001245370.1:p.Pro214Leu, NP_001245371.1:p.Pro132Leu

Select item 138585546817.

rs1385855468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:96207035 (GRCh38)
10:97966791 (GRCh37)
Canonical SPDI:: NC_000010.11:96207034:G:A,NC_000010.11:96207034:G:T
Gene:: BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.96207035G>A, NC_000010.11:g.96207035G>T, NW_003871070.1:g.72579C>T, NW_003871070.1:g.72579C>A, NG_033267.2:g.82816G>A, NG_033267.2:g.82816G>T, NG_007575.1:g.74536C>T, NG_007575.1:g.74536C>A, NM_013314.4:c.793C>T, NM_013314.4:c.793C>A, NM_013314.3:c.793C>T, NM_013314.3:c.793C>A, NM_001114094.2:c.724C>T, NM_001114094.2:c.724C>A, NM_001114094.1:c.724C>T, NM_001114094.1:c.724C>A, NM_001258440.2:c.793C>T, NM_001258440.2:c.793C>A, NM_001258440.1:c.793C>T, NM_001258440.1:c.793C>A, NR_047680.2:n.788C>T, NR_047680.2:n.788C>A, NR_047680.1:n.735C>T, NR_047680.1:n.735C>A, NM_001258441.2:c.724C>T, NM_001258441.2:c.724C>A, NM_001258441.1:c.724C>T, NM_001258441.1:c.724C>A, NR_047681.2:n.736C>T, NR_047681.2:n.736C>A, NR_047681.1:n.683C>T, NR_047681.1:n.683C>A, NR_047682.2:n.731C>T, NR_047682.2:n.731C>A, NR_047682.1:n.678C>T, NR_047682.1:n.678C>A, NR_047683.2:n.825C>T, NR_047683.2:n.825C>A, NR_047683.1:n.772C>T, NR_047683.1:n.772C>A, NM_001258442.2:c.478C>T, NM_001258442.2:c.478C>A, NM_001258442.1:c.478C>T, NM_001258442.1:c.478C>A, NC_000010.10:g.97966791G>A, NC_000010.10:g.97966791G>T, NP_037446.1:p.Gln265Ter, NP_037446.1:p.Gln265Lys, NP_001107566.1:p.Gln242Ter, NP_001107566.1:p.Gln242Lys, NP_001245369.1:p.Gln265Ter, NP_001245369.1:p.Gln265Lys, NP_001245370.1:p.Gln242Ter, NP_001245370.1:p.Gln242Lys, NP_001245371.1:p.Gln160Ter, NP_001245371.1:p.Gln160Lys

Select item 137984300818.

rs1379843008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:96200984 (GRCh38)
10:97960740 (GRCh37)
Canonical SPDI:: NC_000010.11:96200983:G:C
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.96200984G>C, NW_003871070.1:g.78630C>G, NG_033267.2:g.76765G>C, NG_007575.1:g.80587C>G, NM_013314.4:c.1009C>G, NM_013314.3:c.1009C>G, NM_001114094.2:c.940C>G, NM_001114094.1:c.940C>G, NM_001258440.2:c.1009C>G, NM_001258440.1:c.1009C>G, NR_047680.2:n.1004C>G, NR_047680.1:n.951C>G, NM_001258441.2:c.940C>G, NM_001258441.1:c.940C>G, NR_047681.2:n.952C>G, NR_047681.1:n.899C>G, NR_047682.2:n.947C>G, NR_047682.1:n.894C>G, NR_047683.2:n.1041C>G, NR_047683.1:n.988C>G, NM_001258442.2:c.694C>G, NM_001258442.1:c.694C>G, NC_000010.10:g.97960740G>C, NP_037446.1:p.Gln337Glu, NP_001107566.1:p.Gln314Glu, NP_001245369.1:p.Gln337Glu, NP_001245370.1:p.Gln314Glu, NP_001245371.1:p.Gln232Glu

Select item 137307863919.

rs1373078639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:96192080 (GRCh38)
10:97951836 (GRCh37)
Canonical SPDI:: NC_000010.11:96192079:C:T
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.96192080C>T, NW_003871070.1:g.87534G>A, NG_033267.2:g.67861C>T, NG_007575.1:g.89491G>A, NM_013314.4:c.1264G>A, NM_013314.3:c.1264G>A, NM_001114094.2:c.1195G>A, NM_001114094.1:c.1195G>A, NM_001258440.2:c.1108G>A, NM_001258440.1:c.1108G>A, NR_047680.2:n.1259G>A, NR_047680.1:n.1206G>A, NM_001258441.2:c.1039G>A, NM_001258441.1:c.1039G>A, NR_047681.2:n.1207G>A, NR_047681.1:n.1154G>A, NR_047682.2:n.1202G>A, NR_047682.1:n.1149G>A, NR_047683.2:n.1140G>A, NR_047683.1:n.1087G>A, NM_001258442.2:c.793G>A, NM_001258442.1:c.793G>A, NC_000010.10:g.97951836C>T, NP_037446.1:p.Val422Ile, NP_001107566.1:p.Val399Ile, NP_001245369.1:p.Val370Ile, NP_001245370.1:p.Val347Ile, NP_001245371.1:p.Val265Ile

Select item 137146139920.

rs1371461399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:96201029 (GRCh38)
10:97960785 (GRCh37)
Canonical SPDI:: NC_000010.11:96201028:C:T
Gene:: ZNF518A (Varview), BLNK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_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)
HGVS:: NC_000010.11:g.96201029C>T, NW_003871070.1:g.78585G>A, NG_033267.2:g.76810C>T, NG_007575.1:g.80542G>A, NM_013314.4:c.964G>A, NM_013314.3:c.964G>A, NM_001114094.2:c.895G>A, NM_001114094.1:c.895G>A, NM_001258440.2:c.964G>A, NM_001258440.1:c.964G>A, NR_047680.2:n.959G>A, NR_047680.1:n.906G>A, NM_001258441.2:c.895G>A, NM_001258441.1:c.895G>A, NR_047681.2:n.907G>A, NR_047681.1:n.854G>A, NR_047682.2:n.902G>A, NR_047682.1:n.849G>A, NR_047683.2:n.996G>A, NR_047683.1:n.943G>A, NM_001258442.2:c.649G>A, NM_001258442.1:c.649G>A, NC_000010.10:g.97960785C>T, NP_037446.1:p.Asp322Asn, NP_001107566.1:p.Asp299Asn, NP_001245369.1:p.Asp322Asn, NP_001245370.1:p.Asp299Asn, NP_001245371.1:p.Asp217Asn

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Result Filters

Clinical Significance

Validation Status

Publication

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Annotation

Global MAF

Custom range

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Items: 1 to 20 of 258

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