SNP Links for Protein (Select 578819140) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119818224 (GRCh38)
10:121577736 (GRCh37)
Canonical SPDI:: NC_000010.11:119818223:G:A
Gene:: INPP5F (Varview), LOC105378513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119818224G>A, NC_000010.10:g.121577736G>A, NG_044999.2:g.118830G>A, XM_006717720.5:c.1896G>A, XM_006717720.4:c.1896G>A, XM_006717720.3:c.1896G>A, XM_006717720.2:c.1896G>A, XM_006717720.1:c.1896G>A, XR_946359.3:n.34C>T

Select item 14830099039.

rs1483009903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119804254 (GRCh38)
10:121563766 (GRCh37)
Canonical SPDI:: NC_000010.11:119804253:A:G
Gene:: INPP5F (Varview), LOC105378513 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119804254A>G, NC_000010.10:g.121563766A>G, NG_044999.2:g.104860A>G, NM_014937.4:c.1198A>G, NM_014937.3:c.1198A>G, XM_006717720.5:c.1198A>G, XM_006717720.4:c.1198A>G, XM_006717720.3:c.1198A>G, XM_006717720.2:c.1198A>G, XM_006717720.1:c.1198A>G, XM_011539528.4:c.910A>G, XM_011539528.3:c.910A>G, XM_011539528.2:c.910A>G, XM_011539528.1:c.910A>G, XM_011539527.4:c.1084A>G, XM_011539527.3:c.1084A>G, XM_011539527.2:c.1084A>G, XM_011539527.1:c.910A>G, XM_047424834.1:c.910A>G, XM_047424836.1:c.910A>G, XM_047424837.1:c.694A>G, XM_047424838.1:c.499A>G, NP_055752.1:p.Asn400Asp, XP_006717783.1:p.Asn400Asp, XP_011537830.1:p.Asn304Asp, XP_011537829.2:p.Asn362Asp, XP_047280790.1:p.Asn304Asp, XP_047280792.1:p.Asn304Asp, XP_047280793.1:p.Asn232Asp, XP_047280794.1:p.Asn167Asp

Select item 148160823810.

rs1481608238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119811771 (GRCh38)
10:121571283 (GRCh37)
Canonical SPDI:: NC_000010.11:119811770:A:G
Gene:: INPP5F (Varview), LOC105378513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,genic_downstream_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.119811771A>G, NC_000010.10:g.121571283A>G, NG_044999.2:g.112377A>G, NM_014937.4:c.1702A>G, NM_014937.3:c.1702A>G, XM_006717720.5:c.1702A>G, XM_006717720.4:c.1702A>G, XM_006717720.3:c.1702A>G, XM_006717720.2:c.1702A>G, XM_006717720.1:c.1702A>G, XM_011539528.4:c.1414A>G, XM_011539528.3:c.1414A>G, XM_011539528.2:c.1414A>G, XM_011539528.1:c.1414A>G, XM_011539527.4:c.1588A>G, XM_011539527.3:c.1588A>G, XM_011539527.2:c.1588A>G, XM_011539527.1:c.1414A>G, XM_011539529.3:c.244A>G, XM_011539529.2:c.244A>G, XM_011539529.1:c.244A>G, XM_047424834.1:c.1414A>G, XM_047424836.1:c.1414A>G, XM_047424837.1:c.1198A>G, XM_047424838.1:c.1003A>G, NP_055752.1:p.Ile568Val, XP_006717783.1:p.Ile568Val, XP_011537830.1:p.Ile472Val, XP_011537829.2:p.Ile530Val, XP_011537831.1:p.Ile82Val, XP_047280790.1:p.Ile472Val, XP_047280792.1:p.Ile472Val, XP_047280793.1:p.Ile400Val, XP_047280794.1:p.Ile335Val

Select item 147787585811.

rs1477875858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:119792161 (GRCh38)
10:121551673 (GRCh37)
Canonical SPDI:: NC_000010.11:119792160:A:T
Gene:: INPP5F (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119792161A>T, NC_000010.10:g.121551673A>T, NG_044999.2:g.92767A>T, NM_014937.4:c.617A>T, NM_014937.3:c.617A>T, NM_001243195.2:c.*77A>T, NM_001243195.1:c.*77A>T, XM_006717720.5:c.617A>T, XM_006717720.4:c.617A>T, XM_006717720.3:c.617A>T, XM_006717720.2:c.617A>T, XM_006717720.1:c.617A>T, XM_011539528.4:c.329A>T, XM_011539528.3:c.329A>T, XM_011539528.2:c.329A>T, XM_011539528.1:c.329A>T, XM_011539527.4:c.503A>T, XM_011539527.3:c.503A>T, XM_011539527.2:c.503A>T, XM_011539527.1:c.329A>T, XM_047424834.1:c.329A>T, XM_047424836.1:c.329A>T, XM_047424837.1:c.113A>T, NR_003251.1:n.903A>T, NM_198331.1:c.*77A>T, NP_055752.1:p.Asp206Val, XP_006717783.1:p.Asp206Val, XP_011537830.1:p.Asp110Val, XP_011537829.2:p.Asp168Val, XP_047280790.1:p.Asp110Val, XP_047280792.1:p.Asp110Val, XP_047280793.1:p.Asp38Val

Select item 147682357112.

rs1476823571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119818219 (GRCh38)
10:121577731 (GRCh37)
Canonical SPDI:: NC_000010.11:119818218:C:T
Gene:: INPP5F (Varview), LOC105378513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.119818219C>T, NC_000010.10:g.121577731C>T, NG_044999.2:g.118825C>T, XM_006717720.5:c.1891C>T, XM_006717720.4:c.1891C>T, XM_006717720.3:c.1891C>T, XM_006717720.2:c.1891C>T, XM_006717720.1:c.1891C>T, XR_946359.3:n.39G>A, XP_006717783.1:p.Pro631Ser