SNP Links for Protein (Select 19913426) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70936023 (GRCh38)
2:71163153 (GRCh37)
Canonical SPDI:: NC_000002.12:70936022:A:G
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.70936023A>G, NC_000002.11:g.71163153A>G, NG_008016.1:g.5156A>G, NM_001692.4:c.69A>G, NM_001692.3:c.69A>G, NW_004504299.1:g.502304A>G

Select item 14716816396.

rs1471681639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70959955 (GRCh38)
2:71187085 (GRCh37)
Canonical SPDI:: NC_000002.12:70959954:G:A
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000113/4 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.70959955G>A, NC_000002.11:g.71187085G>A, NG_008016.1:g.29088G>A, NM_001692.4:c.462G>A, NM_001692.3:c.462G>A, NW_004504299.1:g.526236G>A, XM_011532907.3:c.582G>A, XM_011532907.2:c.582G>A, XM_011532907.1:c.582G>A

Select item 14652550747.

rs1465255074 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 2:70964849 (GRCh38)
2:71191979 (GRCh37)
Canonical SPDI:: NC_000002.12:70964844:AGAAGAA:AGAA
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: AGAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70964846GAA[1], NC_000002.11:g.71191976GAA[1], NG_008016.1:g.33979GAA[1], NM_001692.4:c.1359GAA[1], NM_001692.3:c.1359GAA[1], NW_004504299.1:g.531127GAA[1], XM_011532907.3:c.1479GAA[1], XM_011532907.2:c.1479GAA[1], XM_011532907.1:c.1479GAA[1], NP_001683.2:p.Lys454del, XP_011531209.1:p.Lys494del

Select item 14587030318.

rs1458703031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:70964770 (GRCh38)
2:71191900 (GRCh37)
Canonical SPDI:: NC_000002.12:70964769:C:A
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70964770C>A, NC_000002.11:g.71191900C>A, NG_008016.1:g.33903C>A, NM_001692.4:c.1283C>A, NM_001692.3:c.1283C>A, NW_004504299.1:g.531051C>A, XM_011532907.3:c.1403C>A, XM_011532907.2:c.1403C>A, XM_011532907.1:c.1403C>A, NP_001683.2:p.Ala428Asp, XP_011531209.1:p.Ala468Asp

Select item 14541771869.

rs1454177186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70963633 (GRCh38)
2:71190763 (GRCh37)
Canonical SPDI:: NC_000002.12:70963632:C:T
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70963633C>T, NC_000002.11:g.71190763C>T, NG_008016.1:g.32766C>T, NM_001692.4:c.1122C>T, NM_001692.3:c.1122C>T, NW_004504299.1:g.529914C>T, XM_011532907.3:c.1242C>T, XM_011532907.2:c.1242C>T, XM_011532907.1:c.1242C>T

Select item 145352617010.

rs1453526170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70963188 (GRCh38)
2:71190318 (GRCh37)
Canonical SPDI:: NC_000002.12:70963187:T:G
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70963188T>G, NC_000002.11:g.71190318T>G, NG_008016.1:g.32321T>G, NM_001692.4:c.936T>G, NM_001692.3:c.936T>G, NW_004504299.1:g.529469T>G, XM_011532907.3:c.1056T>G, XM_011532907.2:c.1056T>G, XM_011532907.1:c.1056T>G

Select item 144414259211.

rs1444142592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70935961 (GRCh38)
2:71163091 (GRCh37)
Canonical SPDI:: NC_000002.12:70935960:A:G
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70935961A>G, NC_000002.11:g.71163091A>G, NG_008016.1:g.5094A>G, NM_001692.4:c.7A>G, NM_001692.3:c.7A>G, NW_004504299.1:g.502242A>G, NP_001683.2:p.Met3Val

Select item 143895415012.

rs1438954150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:70964482 (GRCh38)
2:71191612 (GRCh37)
Canonical SPDI:: NC_000002.12:70964481:G:T
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70964482G>T, NC_000002.11:g.71191612G>T, NG_008016.1:g.33615G>T, NM_001692.4:c.1188G>T, NM_001692.3:c.1188G>T, NW_004504299.1:g.530763G>T, XM_011532907.3:c.1308G>T, XM_011532907.2:c.1308G>T, XM_011532907.1:c.1308G>T, NP_001683.2:p.Met396Ile, XP_011531209.1:p.Met436Ile

Select item 143845694013.

rs1438456940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:70943707 (GRCh38)
2:71170837 (GRCh37)
Canonical SPDI:: NC_000002.12:70943706:G:C
Gene:: ATP6V1B1 (Varview), ATP6V1B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70943707G>C, NC_000002.11:g.71170837G>C, NG_008016.1:g.12840G>C, NM_001692.4:c.168G>C, NM_001692.3:c.168G>C, NW_004504299.1:g.509988G>C

Select item 143835301114.

rs1438353011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70958073 (GRCh38)
2:71185203 (GRCh37)
Canonical SPDI:: NC_000002.12:70958072:T:G
Gene:: ATP6V1B1 (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70958073T>G, NC_000002.11:g.71185203T>G, NG_008016.1:g.27206T>G, NM_001692.4:c.202T>G, NM_001692.3:c.202T>G, NW_004504299.1:g.524354T>G, XM_011532907.3:c.322T>G, XM_011532907.2:c.322T>G, XM_011532907.1:c.322T>G, NP_001683.2:p.Phe68Val, XP_011531209.1:p.Phe108Val

Select item 143726583715.

rs1437265837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70965001 (GRCh38)
2:71192131 (GRCh37)
Canonical SPDI:: NC_000002.12:70965000:C:T
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70965001C>T, NC_000002.11:g.71192131C>T, NG_008016.1:g.34134C>T, NM_001692.4:c.1422C>T, NM_001692.3:c.1422C>T, NW_004504299.1:g.531282C>T, XM_011532907.3:c.1542C>T, XM_011532907.2:c.1542C>T, XM_011532907.1:c.1542C>T

Select item 143409816616.

rs1434098166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70964860 (GRCh38)
2:71191990 (GRCh37)
Canonical SPDI:: NC_000002.12:70964859:A:G
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
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)
G=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.70964860A>G, NC_000002.11:g.71191990A>G, NG_008016.1:g.33993A>G, NM_001692.4:c.1373A>G, NM_001692.3:c.1373A>G, NW_004504299.1:g.531141A>G, XM_011532907.3:c.1493A>G, XM_011532907.2:c.1493A>G, XM_011532907.1:c.1493A>G, NP_001683.2:p.Asn458Ser, XP_011531209.1:p.Asn498Ser

Select item 143109062517.

rs1431090625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:70959049 (GRCh38)
2:71186179 (GRCh37)
Canonical SPDI:: NC_000002.12:70959048:T:A
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70959049T>A, NC_000002.11:g.71186179T>A, NG_008016.1:g.28182T>A, NM_001692.4:c.399T>A, NM_001692.3:c.399T>A, NW_004504299.1:g.525330T>A, XM_011532907.3:c.519T>A, XM_011532907.2:c.519T>A, XM_011532907.1:c.519T>A

Select item 142612042518.

rs1426120425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:70964738 (GRCh38)
2:71191868 (GRCh37)
Canonical SPDI:: NC_000002.12:70964737:C:G,NC_000002.12:70964737:C:T
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70964738C>G, NC_000002.12:g.70964738C>T, NC_000002.11:g.71191868C>G, NC_000002.11:g.71191868C>T, NG_008016.1:g.33871C>G, NG_008016.1:g.33871C>T, NM_001692.4:c.1251C>G, NM_001692.4:c.1251C>T, NM_001692.3:c.1251C>G, NM_001692.3:c.1251C>T, NW_004504299.1:g.531019C>G, NW_004504299.1:g.531019C>T, XM_011532907.3:c.1371C>G, XM_011532907.3:c.1371C>T, XM_011532907.2:c.1371C>G, XM_011532907.2:c.1371C>T, XM_011532907.1:c.1371C>G, XM_011532907.1:c.1371C>T, NP_001683.2:p.Tyr417Ter, XP_011531209.1:p.Tyr457Ter

Select item 142186355119.

rs1421863551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70964759 (GRCh38)
2:71191889 (GRCh37)
Canonical SPDI:: NC_000002.12:70964758:G:A
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: synonymous_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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.70964759G>A, NC_000002.11:g.71191889G>A, NG_008016.1:g.33892G>A, NM_001692.4:c.1272G>A, NM_001692.3:c.1272G>A, NW_004504299.1:g.531040G>A, XM_011532907.3:c.1392G>A, XM_011532907.2:c.1392G>A, XM_011532907.1:c.1392G>A

Select item 142177814420.

rs1421778144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70962846 (GRCh38)
2:71189976 (GRCh37)
Canonical SPDI:: NC_000002.12:70962845:G:A
Gene:: ATP6V1B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70962846G>A, NC_000002.11:g.71189976G>A, NG_008016.1:g.31979G>A, NM_001692.4:c.855G>A, NM_001692.3:c.855G>A, NW_004504299.1:g.529127G>A, XM_011532907.3:c.975G>A, XM_011532907.2:c.975G>A, XM_011532907.1:c.975G>A

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